General Neurology
DNA Labs India | Diagnostic Tests
General Neurology
Clinical Overview
Sub-category mapping under Genetics & Genomics
| Reviewed by: Dr. Rajesh Kumar, MD Pathology | ISO 9001:2015 Certified Laboratory
This content is for educational purposes only. Always consult a qualified healthcare provider for medical advice.
Tests
Analyzer 18 SMA 18 Test Panel
The Analyzer 18 SMA 18 Test Panel is used to diagnose Spinal Muscular Atrophy by identifying genetic...
Angelman Syndrome Test
The purpose of the Angelman Syndrome test is to confirm the diagnosis of Angelman Syndrome by detect...
APO E Genotyping Test
The primary purpose of the APO E Genotyping Test is to identify genetic variants in the APO E gene t...
Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
The purpose of this test is to identify mutations in the dystrophin gene that cause Duchenne or Beck...
Episodic Ataxia Type 1 Hotspot Test
To detect specific mutations in the KCNA1 gene for diagnosis of Episodic Ataxia Type 1, guiding clin...
Episodic Ataxia Comprehensive Profile Hotspot Test
The purpose of the Episodic Ataxia Comprehensive Profile Hotspot Test is to detect genetic mutations...
Episodic Ataxia Type 2 Hotspot Test
The purpose of the Episodic Ataxia Type 2 Hotspot Test is to detect mutations in the CACNA1A gene as...
HLA - Narcolepsy (DRB115 DQB106:02 DQA1*01:02) Test
The purpose of the HLA Narcolepsy test is to detect genetic markers (DRB1*15, DQB1*06:02, DQA1*01:02...
Leigh Syndrome Mitochondrial Mutation Detection Test
The purpose of this test is to detect mutations in mitochondrial DNA that cause Leigh syndrome, aidi...
Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
To detect pathogenic mutations in the MLC1 gene associated with Megalencephalic Leukoencephalopathy...
Mitochondrial Mutation Detection Comprehensive Panel Test
The purpose of the Mitochondrial Mutation Detection Comprehensive Panel Test is to detect mutations...
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS) Mutation Detection Test
To detect mutations in mitochondrial DNA that cause Mitochondrial Encephalomyopathy Lactic Acidosis...
Myotonic Dystrophy Type 2 Test
To detect mutations in the CNBP gene associated with Myotonic Dystrophy Type 2 for diagnosis, geneti...
Notch3 Mutation Detection CADASIL Test
To detect mutations in the NOTCH3 gene for diagnosis of CADASIL, aiding in early intervention and fa...
Nx Gen Sequencing: Aicardi-Goutieres Syndrome Test
To identify mutations in genes associated with Aicardi-Goutieres Syndrome for accurate diagnosis and...
Nx Gen Sequencing: Familial Hemiplegic Migraine Test
The purpose of the Nx Gen Sequencing test for Familial Hemiplegic Migraine is to identify genetic mu...
Nx Gen Sequencing: Alexander Disease Test
The purpose of the Nx Gen Sequencing: Alexander Disease Test is to detect mutations in the GFAP gene...
Nx Gen Sequencing: Alzheimer's Disease Test
To analyze genes APOE, APP, PSEN1, and PSEN2 for genetic mutations associated with Alzheimer's disea...
Nx Gen Sequencing: Amyotrophic Lateral Sclerosis Test
The purpose of this test is to detect genetic mutations linked to Amyotrophic Lateral Sclerosis (ALS...
Nx Gen Sequencing: Ataxia-Telangiectasia Test
The purpose of the Nx Gen Sequencing: Ataxia-Telangiectasia Test is to accurately diagnose Ataxia-Te...
Nx Gen Sequencing: Adrenoleukodystrophy Test
The primary purpose of the Nx Gen Sequencing: Adrenoleukodystrophy Test is to identify pathogenic or...
Nx Gen Sequencing: Bethlem Myopathy Myofibrillar Myopathy & Ullrich Muscular Dystrophy Test
To identify genetic mutations responsible for Bethlem Myopathy, Myofibrillar Myopathy, and Ullrich M...
Nx Gen Sequencing: Dravet's Syndrome & Early Infantile Epileptic Encephalopathy Test
The purpose of this genetic test is to provide a definitive diagnosis for Dravet's Syndrome and Earl...
Nx Gen Sequencing: Comprehensive Epilepsy Test
The purpose of this test is to identify genetic mutations associated with epilepsy, enabling healthc...
Nx Gen Sequencing: Dystonia Test
To identify genetic mutations associated with dystonia for accurate diagnosis, classification, and p...
Nx Gen Sequencing: Canavan Disease Test
The purpose of the Nx Gen Sequencing for Canavan disease is to identify mutations in the ASPA gene t...
Nx Gen Sequencing: Episodic Ataxia Test
The purpose of this test is to identify genetic mutations responsible for Episodic Ataxia, enabling...
Nx Gen Sequencing: Charcot-Marie-Tooth Disease & Sensory Neuropathies Test
The purpose of the Nx Gen Sequencing test for Charcot-Marie-Tooth Disease and Sensory Neuropathies i...
Nx Gen Sequencing: Megalencephalic Leukoencephalopathy with Subcortical Cysts Test
The purpose of Nx Gen Sequencing for MLC is to identify genetic mutations in the MLC1 and HEPACAM ge...
SCA-23 (Spinocerebellar Ataxia): PDYN Gene Mutation Test
To confirm the presence of PDYN gene mutations associated with Spinocerebellar Ataxia Type 23, aidin...
SCA-2 (Spinocerebellar Ataxia): ATXN2 Gene Mutation Test
The purpose of this test is to detect mutations in the ATXN2 gene that cause Spinocerebellar Ataxia...
SCA-8 (Spinocerebellar Ataxia): ATXN8OS & ATXN8 Gene Mutation Test
To detect mutations in the ATXN8OS and ATXN8 genes, specifically identifying expansions of CTG and C...
SCA-17 (Spinocerebellar Ataxia): TBP Gene Mutation Test
The purpose of the SCA-17 TBP gene mutation test is to diagnose Spinocerebellar Ataxia Type 17 by de...
SCA-3 (Spinocerebellar Ataxia): ATXN3 Gene Mutation Test
To detect mutations in the ATXN3 gene associated with Spinocerebellar Ataxia Type 3 (SCA-3).
SCA-6 (Spinocerebellar Ataxia): CACNA1A Gene Mutation Test
The purpose of the SCA-6 genetic test is to detect mutations in the CACNA1A gene, which are responsi...
SCA-7 (Spinocerebellar Ataxia): ATXN7 Gene Mutation Test
To detect mutations in the ATXN7 gene for diagnosis of spinocerebellar ataxia type 7, especially in...
SCA-5 (Spinocerebellar Ataxia): SPTBN2 Gene Mutation Test
This test is performed to detect mutations in the SPTBN2 gene (exon 12 hotspot locus) that cause Spi...
RNASEH2A Gene Aicardi-Goutieres Syndrome Type 4 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the RNASEH2A gene using Next Generatio...
DHH Gene 46,XY Gonadal Dysgenesis, Partial, with Minifascicular Neuropathy NGS Genetic Test
The purpose of this test is to confirm the diagnosis of 46,XY gonadal dysgenesis, partial, with mini...
SAMHD1 Gene Aicardi-Goutieres Syndrome Type 5 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the SAMHD1 gene to diagnose Aicardi-Gou...
PLXNB3 Gene Adrenoleukodystrophy, X-Linked NGS Genetic Test
The purpose of the PLXNB3 Gene Adrenoleukodystrophy X-Linked NGS Genetic Test is to identify pathoge...
ACOX1 Gene Acyl-CoA Peroxisomal Oxidase Deficiency NGS Genetic Test
The purpose of this test is to detect mutations in the ACOX1 gene that cause acyl-CoA peroxisomal ox...
RNASEH2C Gene Aicardi-Goutieres Syndrome Type 3 NGS Genetic Test
To confirm diagnosis of Aicardi-Goutieres Syndrome Type 3 by detecting mutations in the RNASEH2C gen...
TREX1 Gene Aicardi-Goutieres Syndrome Type 1 NGS Genetic Test
To diagnose Aicardi-Goutieres Syndrome Type 1 by detecting pathogenic mutations in the TREX1 gene.
ABCD1 Gene Adrenoleukodystrophy/Adrenomyeloneuropathy NGS Genetic Test
To diagnose mutations in the ABCD1 gene responsible for Adrenoleukodystrophy (ALD) and Adrenomyelone...
RNASEH2B Gene Aicardi-Goutieres Syndrome Type 2 NGS Genetic Test
To diagnose Aicardi-Goutieres Syndrome type 2 by identifying pathogenic mutations in the RNASEH2B ge...
ABCD1 Gene Adrenoleukodystrophy, X-Linked NGS Genetic Test
To identify mutations in the ABCD1 gene for accurate diagnosis of X-linked adrenoleukodystrophy, car...
SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy NGS Genetic Test
To detect mutations in the SLC12A6 gene for diagnosis, genetic counseling, and family planning.
IFIH1 Gene Aicardi-Goutieres Syndrome Type 7 NGS Genetic Test
The purpose of this test is to diagnose Aicardi-Goutieres Syndrome Type 7 by detecting mutations in...
DCPS Gene Al-Raqad Syndrome NGS Genetic Test
To diagnose Al-Raqad Syndrome by identifying mutations in the DCPS gene using Next-Generation Sequen...
AAAS Gene Achalasia Addisonianism Alacrimia Syndrome NGS Genetic Test
To diagnose AAAS gene mutations causing Achalasia Addisonianism Alacrimia Syndrome for early managem...
DNAJC3 Gene Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus NGS Genetic Test
The purpose of this test is to detect mutations in the DNAJC3 gene to diagnose combined cerebellar a...
CDKL5 Gene Angelman-Like Syndrome NGS Genetic Test
To identify mutations in the CDKL5 gene for the diagnosis of CDKL5-related Angelman-like syndrome, a...
NLGN3 Gene Asperger Syndrome Susceptibility X-Linked Type 2 NGS Genetic Test
The primary purpose of the NLGN3 Gene Asperger Syndrome Susceptibility X-Linked Type 2 NGS Genetic T...
MRE11 Gene Ataxia Telangiectasia Like Disorder NGS Genetic Test
Diagnosis of Ataxia Telangiectasia Like Disorder through genetic analysis of the MRE11 gene to confi...
ATM Gene Ataxia-Telangiectasia NGS Genetic Test
To detect mutations in the ATM gene for diagnosis of Ataxia-Telangiectasia, aiding in early manageme...
COX20 Gene Ataxia and Muscle Hypotonia NGS Genetic Test
To identify pathogenic mutations in the COX20 gene for the diagnosis of COX20-related ataxia and mus...
MT-TV Gene Ataxia, Progressive Seizures, Mental Deterioration, and Hearing Loss, MT-TV Related NGS Genetic Test
To identify mutations in the MT-TV gene associated with ataxia, progressive seizures, mental deterio...
PRPS1 Gene Arts Syndrome NGS Genetic Test
To confirm the diagnosis of PRPS1 Gene Arts Syndrome by detecting mutations in the PRPS1 gene using...
FLVCR1 Gene Ataxia, Posterior Column, with Retinitis Pigmentosa NGS Genetic Test
This test is used to diagnose FLVCR1 Gene Ataxia with Retinitis Pigmentosa by detecting mutations in...
SETX Gene Ataxia-Oculomotor Apraxia Type 2 NGS Genetic Test
To detect mutations in the SETX gene that cause Ataxia-Oculomotor Apraxia Type 2 (AOA2) for accurate...
PIK3R5 Gene Ataxia-Oculomotor Apraxia Type 3 NGS Genetic Test
The purpose of this test is to diagnose Ataxia-Oculomotor Apraxia Type 3 by detecting pathogenic mut...
MECP2 Gene Angelman-Like Syndrome NGS Genetic Test
The primary purpose of the MECP2 Gene Angelman-Like Syndrome NGS Genetic Test is to identify pathoge...
PNKP Gene Ataxia-Oculomotor Apraxia Type 4 NGS Genetic Test
To diagnose Ataxia-Oculomotor Apraxia Type 4 by identifying pathogenic mutations in the PNKP gene us...
RNF170 Gene Ataxia, Sensory Type 1, Autosomal Dominant NGS Genetic Test
The purpose of the RNF170 Gene Ataxia, Sensory Type 1, Autosomal Dominant NGS Genetic Test is to det...
DRD4 Gene Attention Deficit-Hyperactivity Disorder NGS Genetic Test
To identify genetic variations in the DRD4 gene associated with Attention Deficit-Hyperactivity Diso...
DRD5 Gene Attention Deficit-Hyperactivity Disorder NGS Genetic Test
The purpose of the DRD5 Gene ADHD NGS Genetic Test is to identify genetic variations in the DRD5 gen...
BPIFA3 Gene Autism Spectrum Disorder NGS Genetic Test
The purpose of this test is to detect genetic variations in the BPIFA3 gene that may be associated w...
ANKS3 Gene Autism Spectrum Disorder NGS Genetic Test
To diagnose autism spectrum disorder and identify genetic variations in the ANKS3 gene that may cont...
BIN1 Gene Centronuclear Myopathy Type 2 NGS Genetic Test
To detect mutations in the BIN1 gene associated with Centronuclear Myopathy Type 2, aiding in diagno...
CP Gene Cerebellar Ataxia NGS Genetic Test
The purpose of this test is to identify mutations in the CP gene associated with cerebellar ataxia,...
GBA2 Gene Cerebellar Ataxia with Spasticity NGS Genetic Test
To diagnose cerebellar ataxia with spasticity caused by GBA2 gene mutations, enabling informed clini...
ASCL1 Gene Central Hypoventilation Syndrome, Congenital NGS Genetic Test
To detect mutations in the ASCL1 gene for the diagnosis of congenital central hypoventilation syndro...
SNX14 Gene Cerebellar Ataxia, SNX14 Related NGS Genetic Test
The purpose of the SNX14 Gene Cerebellar Ataxia NGS Genetic Test is to detect mutations in the SNX14...
DNMT1 Gene Cerebellar Ataxia with Deafness and Narcolepsy, Autosomal Recessive NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the DNMT1 gene responsible...
CAMTA1 Gene Cerebellar Ataxia, Nonprogressive, with Mental Retardation NGS Genetic Test
The purpose of this test is to diagnose CAMTA1 Gene Cerebellar Ataxia by detecting pathogenic mutati...
DNM2 Gene Centronuclear Myopathy Type 1 NGS Genetic Test
To identify mutations in the DNM2 gene that cause Centronuclear Myopathy Type 1, aiding in diagnosis...
SPEG Gene Centronuclear Myopathy Type 5 NGS Genetic Test
To identify pathogenic mutations in the SPEG gene for definitive diagnosis of centronuclear myopathy...
ATP8A2 Gene Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome Type 4 NGS Genetic Test
To diagnose Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome Type 4 by detecting m...
CCDC78 Gene Centronuclear Myopathy Type 4 NGS Genetic Test
The purpose of the CCDC78 Gene Centronuclear Myopathy Type 4 NGS Genetic Test is to detect mutations...
WDR81 Gene Cerebellar Ataxia with Mental Retardation and Dysequilibrium Syndrome Type 2 NGS Genetic Test
The WDR81 Gene CAMRQ2 NGS Genetic Test is performed to identify pathogenic mutations in the WDR81 ge...
CA8 Gene Cerebellar Ataxia and Mental Retardation with or without Quadrupedal Locomotion Type 3 NGS Genetic Test
To identify mutations in the CA8 gene for diagnosis of cerebellar ataxia and mental retardation with...
MTMR14 Gene Centronuclear Myopathy Type 1 NGS Genetic Test
The MTMR14 Gene Centronuclear Myopathy Type 1 NGS Genetic Test is performed to confirm a molecular d...
VLDLR Gene Cerebellar Hypoplasia and Mental Retardation with or without Quadrupedal Locomotion Type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the VLDLR gene t...
PMP22 Gene CMT1E NGS Genetic Test
To identify pathogenic mutations in the PMP22 gene that cause Charcot-Marie-Tooth disease type 1E (C...
MFN2 Gene CMT2A2 NGS Genetic Test
To diagnose Charcot-Marie-Tooth disease type 2A2 (CMT2A2) by detecting mutations in the MFN2 gene us...
MPZ Gene CMT2I NGS Genetic Test
The purpose of the MPZ Gene CMT2I NGS Genetic Test is to identify mutations in the MPZ gene responsi...
RAB7A Gene CMT2B NGS Genetic Test
To detect pathogenic mutations in the RAB7A gene for accurate diagnosis of Charcot-Marie-Tooth disea...
TRPV4 Gene CMT2C NGS Genetic Test
To diagnose Charcot-Marie-Tooth disease type 2C by identifying pathogenic mutations in the TRPV4 gen...
MPZ Gene CMT2J NGS Genetic Test
To identify pathogenic mutations in the MPZ gene for confirming diagnosis of Charcot-Marie-Tooth dis...
HSPB1 Gene CMT2F NGS Genetic Test
To detect mutations in the HSPB1 gene for diagnosis of Charcot-Marie-Tooth disease type 2F (CMT2F).
LMNA Gene CMT2B1 NGS Genetic Test
The primary purpose of the LMNA Gene CMT2B1 NGS Genetic Test is to confirm or rule out a genetic dia...
KIF1B Gene CMT2A1 NGS Genetic Test
To identify pathogenic mutations in the KIF1B gene for definitive diagnosis of Charcot-Marie-Tooth d...
GARS1 Gene CMT2D NGS Genetic Test
To confirm a diagnosis of Charcot-Marie-Tooth disease type 2D (CMT2D) caused by mutations in the GAR...
SBF2 Gene CMT4B2 NGS Genetic Test
The purpose of the SBF2 Gene CMT4B2 NGS Genetic Test is to confirm a diagnosis of CMT4B2 by detectin...
MTMR2 Gene CMT4B1 NGS Genetic Test
The primary purpose of the MTMR2 Gene CMT4B1 NGS Genetic Test is to identify pathogenic mutations in...
GDAP1 Gene CMT4A NGS Genetic Test
The purpose of the GDAP1 Gene CMT4A NGS Genetic Test is to diagnose Charcot-Marie-Tooth disease type...
CC2D2A Gene COACH syndrome NGS Genetic Test
To diagnose COACH syndrome by detecting pathogenic mutations in the CC2D2A gene, enabling early inte...
SH3TC2 Gene CMT4C NGS Genetic Test
The purpose of the SH3TC2 Gene CMT4C NGS Genetic Test is to detect pathogenic mutations in the SH3TC...
COQ9 Gene Coenzyme Q10 deficiency type 5 NGS Genetic Test
The purpose of this test is to detect mutations in the COQ9 gene responsible for Coenzyme Q10 Defici...
TMEM67 Gene COACH syndrome NGS Genetic Test
The purpose of the TMEM67 Gene COACH Syndrome NGS Genetic Test is to identify pathogenic mutations i...
CNTN1 Gene Compton-North congenital myopathy NGS Genetic Test
The purpose of this test is to confirm or rule out a genetic diagnosis of Compton-North congenital m...
VPS13B Gene Cohen syndrome NGS Genetic Test
The purpose of the VPS13B Gene Cohen Syndrome NGS Genetic Test is to provide a definitive molecular...
PDSS2 Gene Coenzyme Q10 deficiency type 3 NGS Genetic Test
The primary purpose of this test is to identify pathogenic mutations in the PDSS2 gene that cause Co...
RPS6KA3 Gene Coffin-Lowry syndrome NGS Genetic Test
The purpose of the RPS6KA3 Gene Coffin-Lowry Syndrome NGS Genetic Test is to confirm the diagnosis o...
PDSS1 Gene Coenzyme Q10 deficiency type 2 NGS Genetic Test
The purpose of this test is to diagnose Coenzyme Q10 deficiency type 2 caused by mutations in the PD...
RPGRIP1L Gene COACH syndrome NGS Genetic Test
The primary purpose of the RPGRIP1L Gene COACH Syndrome NGS Genetic Test is to identify pathogenic o...
B3GALNT2 Gene Congenital muscular dystrophy and hypoglycosylation of α-dystroglycan NGS Genetic Test
The purpose of this test is to confirm the presence of mutations in the B3GALNT2 gene, which causes...
COQ2 Gene Coenzyme Q10 deficiency type 1 NGS Genetic Test
To diagnose Coenzyme Q10 deficiency type 1 by identifying pathogenic mutations in the COQ2 gene usin...
KCTD17 Gene DYT26, myoclonic NGS Genetic Test
The purpose of the KCTD17 Gene DYT26 NGS Genetic Test is to confirm the diagnosis of DYT26 by detect...
SLC2A1 Gene DYT18 NGS Genetic Test
To diagnose DYT18 by identifying mutations in the SLC2A1 gene, facilitating early management and gen...
DRD2 Gene DYT11, DRD2 related NGS Genetic Test
To detect mutations in the DRD2 gene associated with DYT11 dystonia, enabling precise diagnosis and...
TIMM8A Gene Dystonia-deafness syndrome NGS Genetic Test
To detect pathogenic mutations in the TIMM8A gene for the diagnosis of dystonia-deafness syndrome, a...
HPCA Gene DYT2 NGS Genetic Test
The primary purpose of the HPCA Gene DYT2 NGS Genetic Test is to confirm or rule out a diagnosis of...
PRRT2 Gene DYT10 NGS Genetic Test
To diagnose movement disorders caused by PRRT2 gene mutations, such as Paroxysmal Kinesigenic Dyskin...
PRKRA Gene DYT16 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the PRKRA gene to confirm a diagnosis...
CACNA1B Gene DYT23 NGS Genetic Test
The purpose of the CACNA1B Gene DYT23 NGS Genetic Test is to identify mutations in the CACNA1B gene...
ANO3 Gene DYT24 NGS Genetic Test
To detect mutations in the ANO3 gene associated with DYT24 dystonia for diagnostic and management pu...
ATP1A3 Gene DYT12 NGS Genetic Test
The purpose of this test is to diagnose mutations in the ATP1A3 gene associated with Rapid-Onset Dys...
SPR Gene Dystonia, DOPA-responsive, autosomanl recessive NGS Genetic Test
The purpose of this test is to diagnose SPR gene dystonia by detecting pathogenic mutations in the S...
COL6A3 Gene DYT27 NGS Genetic Test
The purpose of the COL6A3 Gene DYT27 NGS Genetic Test is to detect mutations in the COL6A3 gene asso...
GNAL Gene DYT25 NGS Genetic Test
To diagnose movement disorders caused by mutations in the GNAL gene, such as DYT25 dystonia, and to...
TOR1A Gene DYT1 NGS Genetic Test
The primary purpose of the TOR1A Gene DYT1 NGS Genetic Test is to confirm or rule out a genetic diag...
GABRA1 Gene Early infantile epileptic encephalopathy type 19 NGS Genetic Test
To identify mutations in the GABRA1 gene responsible for early infantile epileptic encephalopathy ty...
CDKL5 Gene Early infantile epileptic encephalopathy type 2 NGS Genetic Test
The purpose of the CDKL5 Gene EIEE2 NGS Genetic Test is to diagnose early infantile epileptic enceph...
ST3GAL3 Gene Early infantile epileptic encephalopathy type 15 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ST3GAL3 gene associated with EIE...
PLCB1 Gene Early infantile epileptic encephalopathy type 12 NGS Genetic Test
To detect mutations in the PLCB1 gene for definitive diagnosis of Early Infantile Epileptic Encephal...
PIGA Gene Early infantile epileptic encephalopathy type 20 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the PIGA gene for the diagnosis of e...
NECAP1 Gene Early infantile epileptic encephalopathy type 21 NGS Genetic Test
The purpose of the NECAP1 Gene EIEE21 NGS Genetic Test is to accurately diagnose Early Infantile Epi...
SCN8A Gene Early infantile epileptic encephalopathy type 13 NGS Genetic Test
To diagnose mutations in the SCN8A gene that cause Early Infantile Epileptic Encephalopathy Type 13,...
GNAO1 Gene Early infantile epileptic encephalopathy type 17 NGS Genetic Test
The purpose of this test is to identify mutations in the GNAO1 gene through Next-Generation Sequenci...
WWOX Gene Early infantile epileptic encephalopathy type 28 NGS Genetic Test
The purpose of the WWOX Gene NGS Genetic Test is to accurately diagnose Early Infantile Epileptic En...
KCNT1 Gene Early infantile epileptic encephalopathy type 14 NGS Genetic Test
The primary purpose of the KCNT1 Gene NGS Genetic Test is to detect mutations in the KCNT1 gene that...
AARS1 Gene Early infantile epileptic encephalopathy type 29 NGS Genetic Test
The purpose of the AARS1 Gene NGS Genetic Test is to detect mutations in the AARS1 gene associated w...
TBC1D24 Gene Early infantile epileptic encephalopathy type 16 NGS Genetic Test
The primary purpose of the TBC1D24 Gene EIEE Type 16 NGS Genetic Test is to identify pathogenic or l...
DOCK7 Gene Early infantile epileptic encephalopathy type 23 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the DOCK7 gene to confirm a diagnosis o...
GRIN2B Gene Early infantile epileptic encephalopathy type 27 NGS Genetic Test
The purpose of the GRIN2B Gene Early Infantile Epileptic Encephalopathy Type 27 NGS Genetic Test is...
HCN1 Gene Early infantile epileptic encephalopathy type 24 NGS Genetic Test
The purpose of the HCN1 Gene EIEE24 NGS Genetic Test is to identify pathogenic or likely pathogenic...
SIK1 Gene Early infantile epileptic encephalopathy type 30 NGS Genetic Test
The purpose of this test is to detect mutations in the SIK1 gene to diagnose Early Infantile Epilept...
SLC25A22 Gene Early infantile epileptic encephalopathy type 3 NGS Genetic Test
The purpose of the SLC25A22 Gene EIEE Type 3 NGS Genetic Test is to identify mutations in the SLC25A...
MED12 Gene FG syndrome type 1 NGS Genetic Test
The purpose of the MED12 Gene FG syndrome type 1 NGS Genetic Test is to detect mutations in the MED1...
ADGRV1 Gene Febrile seizures, familial, type 4 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the ADGRV1 gene for the diagnosis of f...
SCN11A Gene Episodic pain syndrome type 3, familial NGS Genetic Test
The purpose of the SCN11A gene NGS genetic test is to identify mutations in the SCN11A gene associat...
ETHE1 Gene Ethylmalonic encephalopathy NGS Genetic Test
The purpose of this test is to identify mutations in the ETHE1 gene to confirm a diagnosis of ethylm...
PRNP Gene Fatal familial imsomnia NGS Genetic Test
To identify mutations in the PRNP gene associated with Fatal Familial Insomnia for diagnostic confir...
FAT1 Gene Facioscapulohumeral dystrophy-like phenotype, FAT1 related NGS Genetic Test
To identify pathogenic mutations in the FAT1 gene using next-generation sequencing for accurate diag...
HOXB1 Gene Facial paresis type 3 NGS Genetic Test
To detect mutations in the HOXB1 gene associated with facial paresis type 3, enabling accurate diagn...
FLNC Gene Filaminopathy NGS Genetic Test
To confirm diagnosis of FLNC gene filaminopathy through detection of mutations in the FLNC gene usin...
CACNA1A Gene Familial hemiplegic migraine type 1 NGS Genetic Test
To identify mutations in the CACNA1A gene for diagnosis of Familial Hemiplegic Migraine Type 1.
TBC1D24 Gene Familial infantile myoclonic epilepsy NGS Genetic Test
The purpose of this NGS Genetic Test is to identify mutations in the TBC1D24 gene associated with fa...
ATP1A2 Gene Familial hemiplegic migraine type 2 NGS Genetic Test
The purpose of this test is to detect mutations in the ATP1A2 gene to confirm a diagnosis of Familia...
SCN9A Gene Erythermalgia, primary NGS Genetic Test
The primary purpose of the SCN9A Gene Erythermalgia NGS Genetic Test is to identify pathogenic or li...
SCN1A Gene Familial hemiplegic migraine type 3 NGS Genetic Test
This test is performed to identify pathogenic or likely pathogenic mutations in the SCN1A gene that...
FLNA Gene FG syndrome type 2 NGS Genetic Test
To identify pathogenic mutations in the FLNA gene that cause FG Syndrome Type 2, facilitating accura...
FMR1 Gene Fragile X syndrome NGS Genetic Test
The purpose of the FMR1 Gene Fragile X Syndrome NGS Genetic Test is to diagnose Fragile X Syndrome b...
FMR1 Gene Fragile X tremor/ataxia syndrome NGS Genetic Test
The purpose of this test is to diagnose Fragile X tremor/ataxia syndrome (FXTAS) by detecting mutati...
FUCA1 Gene Fucosidosis NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of fucosidosis by identifying mutatio...
FKTN Gene Fukuyama congenital muscular dystrophy NGS Genetic Test
The purpose of this test is to diagnose Fukuyama Congenital Muscular Dystrophy by detecting mutation...
STX1B Gene Generalized epilepsy with febrile seizures plus type 9 NGS Genetic Test
The primary purpose of this test is to identify mutations in the STX1B gene that are responsible for...
KCNMA1 Gene Generalized epilepsy and paroxysmal dyskinesia NGS Genetic Test
To identify mutations in the KCNMA1 gene that cause generalized epilepsy and paroxysmal dyskinesia f...
SCN9A Gene Generalized epilepsy with febrile seizures plus type 7 NGS Genetic Test
To diagnose Generalized Epilepsy with Febrile Seizures Plus Type 7 through genetic analysis of the S...
SCN1B Gene Generalized epilepsy with febrile seizures plus type 1 NGS Genetic Test
To diagnose Generalized Epilepsy with Febrile Seizures Plus Type 1 (GEFS+) by identifying mutations...
TMEM138 Gene Joubert syndrome type 16 NGS Genetic Test
The purpose of this test is to identify mutations in the TMEM138 gene for the diagnosis of Joubert S...
CEP41 Gene Joubert syndrome type 15 NGS Genetic Test
The purpose of the CEP41 Gene Joubert Syndrome Type 15 NGS Genetic Test is to identify mutations in...
TBR1 Gene Intellectual disability, TBR1 related NGS Genetic Test
To identify pathogenic mutations in the TBR1 gene associated with intellectual disability, enabling...
INPP5E Gene Joubert syndrome type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the INPP5E gene to confirm a diagnosis of Joube...
TCTN1 Gene Joubert syndrome type 13 NGS Genetic Test
The purpose of the TCTN1 Gene Joubert Syndrome Type 13 NGS Genetic Test is to detect mutations in th...
TIMM8A Gene Jensen syndrome NGS Genetic Test
To diagnose Jensen syndrome by identifying pathogenic mutations in the TIMM8A gene using NGS technol...
CPLANE1 Gene Joubert syndrome type 17 NGS Genetic Test
The purpose of the CPLANE1 Gene Joubert Syndrome Type 17 NGS Genetic Test is to identify mutations i...
CSPP1 Gene Joubert syndrome type 21 NGS Genetic Test
The purpose of this test is to diagnose Joubert Syndrome Type 21 by identifying mutations in the CSP...
TCTN3 Gene Joubert syndrome type 18 NGS Genetic Test
The purpose of this test is to identify mutations in the TCTN3 gene associated with Joubert Syndrome...
TMEM237 Gene Joubert syndrome type 14 NGS Genetic Test
The purpose of the TMEM237 Gene Joubert Syndrome Type 14 NGS Genetic Test is to identify pathogenic...
TMEM216 Gene Joubert syndrome type 2 NGS Genetic Test
The purpose of the TMEM216 Gene Joubert Syndrome Type 2 NGS Genetic Test is to accurately detect pat...
PDE6D Gene Joubert syndrome type 22 NGS Genetic Test
The purpose of the PDE6D Gene Joubert Syndrome Type 22 NGS Genetic Test is to confirm a clinical dia...
TCTN2 Gene Joubert syndrome type 24 NGS Genetic Test
To diagnose Joubert syndrome type 24 by identifying mutations in the TCTN2 gene using Next-Generatio...
OFD1 Gene Joubert syndrome type 10 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the OFD1 gene t...
RPGRIP1L Gene Joubert syndrome type 7 NGS Genetic Test
The purpose of the RPGRIP1L Gene Joubert Syndrome Type 7 NGS Genetic Test is to confirm a diagnosis...
TMEM67 Gene Joubert syndrome type 6 NGS Genetic Test
The purpose of this test is to detect mutations in the TMEM67 gene to confirm Joubert syndrome type...
CEP290 Gene Joubert syndrome type 5 NGS Genetic Test
The purpose of this test is to identify mutations in the CEP290 gene that cause Joubert Syndrome Typ...
AHI1 Gene Joubert syndrome type 3 NGS Genetic Test
The AHI1 Gene Joubert Syndrome Type 3 NGS Genetic Test is performed to identify pathogenic or likely...
NPHP1 Gene Joubert syndrome type 4 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the NPHP1 gene t...
EIF2B1 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test
The purpose of this test is to detect mutations in the EIF2B1 gene associated with Leukoencephalopat...
SCP2 Gene Leukoencephalopathy with dystonia and motor neuropathy NGS Genetic Test
The purpose of the SCP2 Gene NGS Genetic Test is to detect pathogenic mutations in the SCP2 gene ass...
EIF2B4 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test
The purpose of this test is to detect mutations in the EIF2B4 gene to confirm diagnosis of leukoence...
GBA Gene Lewy body dementia, susceptibility to NGS Genetic Test
To identify mutations in the GBA gene that increase susceptibility to Lewy Body Dementia.
LMNA Gene Limb-girdle muscular dystrophy, autosomal dominant type 1B NGS Genetic Test
To detect mutations in the LMNA gene associated with limb-girdle muscular dystrophy type 1B, aiding...
DNAJB6 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1E NGS Genetic Test
To diagnose DNAJB6 gene mutations causing limb-girdle muscular dystrophy type 1E, aiding in early ma...
EIF2B5 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test
The purpose of this NGS Genetic Test is to confirm the diagnosis of vanishing white matter disease b...
EIF2B3 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test
To identify mutations in the EIF2B3 gene for diagnosing vanishing white matter disease, aiding in cl...
SGCD Gene Limb-girdle muscular dystrophy, autosomal recessice type 2F NGS Genetic Test
The purpose of this test is to identify mutations in the SGCD gene that cause autosomal recessive li...
CAV3 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1C NGS Genetic Test
The purpose of the CAV3 Gene Limb-girdle muscular dystrophy NGS Genetic Test is to identify pathogen...
RNASET2 Gene Leukoencephalopathy, cystic without megalencephaly NGS Genetic Test
To diagnose RNASET2 gene mutations causing leukoencephalopathy, cystic without megalencephaly, enabl...
MYOT Gene Limb-girdle muscular dystrophy, autosomal dominant type 1A NGS Genetic Test
This test is performed to identify pathogenic or likely pathogenic variants in the MYOT gene that ca...
EIF2B2 Gene Leukoencephalopathy with vanishing white matter NGS Genetic Test
The purpose of the EIF2B2 Gene Leukoencephalopathy with Vanishing White Matter NGS Genetic Test is t...
POMK Gene Limb-girdle muscular dystrophy, autosomal recessive type 12C NGS Genetic Test
To diagnose limb-girdle muscular dystrophy type 12C caused by mutations in the POMK gene using next-...
NDE1 Gene Lissencephaly type 4 with microcephaly NGS Genetic Test
The purpose of this test is to detect mutations in the NDE1 gene that cause lissencephaly type 4 wit...
L1CAM Gene MASA syndrome NGS Genetic Test
The purpose of this test is to diagnose MASA syndrome by identifying pathogenic mutations in the L1C...
EFTUD2 Gene Mandibulofacial dysostosis with microcephaly NGS Genetic Test
The primary purpose of the EFTUD2 Gene MFDM NGS Genetic Test is to detect pathogenic mutations in th...
KLF8 Gene Mental retardation non-syndromic NGS Genetic Test
The purpose of the KLF8 Gene Mental Retardation NGS Genetic Test is to detect genetic mutations in t...
ATRX Gene Mental retardation with hypotonic facies syndrome, X-linked NGS Genetic Test
The purpose of the ATRX Gene X-Linked NGS Genetic Test is to identify pathogenic mutations in the AT...
NXF5 Gene Mental retardation non-syndromic NGS Genetic Test
The purpose of this test is to identify genetic mutations in the NXF5 gene that cause non-syndromic...
ELK1 Gene Mental retardation non-syndromic NGS Genetic Test
To identify pathogenic mutations in the ELK1 gene associated with non-syndromic mental retardation,...
XBP1 Gene Major affective disorder 7 NGS Genetic Test
The purpose of the XBP1 Gene Major Affective Disorder 7 NGS Genetic Test is to detect clinically sig...
ZCCHC12 Gene Mental retardation non-syndromic NGS Genetic Test
To identify pathogenic variants in the ZCCHC12 gene that may cause non-syndromic mental retardation,...
CASK Gene Mental retardation and microcephaly with pontine and cerebellar hypoplasia NGS Genetic Test
To identify mutations in the CASK gene associated with mental retardation, microcephaly, and pontine...
SGCG Gene Limb-girdle muscular dystrophy, autosomal recessive type 2C NGS Genetic Test
The purpose of the SGCG Gene Limb-girdle Muscular Dystrophy Type 2C NGS Genetic Test is to identify...
SGCA Gene Limb-girdle muscular dystrophy, autosomal recessive type 2D NGS Genetic Test
The purpose of the SGCA Gene Limb-girdle Muscular Dystrophy Type 2D NGS Genetic Test is to identify...
RAB40AL Gene Mental retardation, X-linked NGS Genetic Test
To detect mutations in the RAB40AL gene associated with X-linked mental retardation, aiding in accur...
IQSEC2 Gene Mental retardation, X-linked type 1 NGS Genetic Test
To identify pathogenic mutations in the IQSEC2 gene that cause X-linked intellectual disability, aid...
ZDHHC9 Gene Mental retardation, X-linked syndromic, Raymond type NGS Genetic Test
The purpose of the ZDHHC9 Gene NGS Genetic Test is to accurately diagnose mutations in the ZDHHC9 ge...
MID2 Gene Mental retardation, X-linked type 101 NGS Genetic Test
The purpose of the MID2 Gene NGS Genetic Test is to identify mutations in the MID2 gene responsible...
UPF3B Gene Mental retardation, X-linked type 14 NGS Genetic Test
The purpose of the UPF3B Gene NGS Genetic Test is to diagnose X-linked type 14 mental retardation by...
HUWE1 Gene Mental retardation, X-linked syndromic, Turner type NGS Genetic Test
To identify pathogenic mutations in the HUWE1 gene for accurate diagnosis of mental retardation, X-l...
TUSC3 Gene Mental retardation, autosomal recessive type 7 NGS Genetic Test
To confirm diagnosis of TUSC3 gene mental retardation, identify specific pathogenic variants in the...
DDX3X Gene Mental retardation, X-linked type 102 NGS Genetic Test
To diagnose mental retardation, X-linked type 102 by detecting mutations in the DDX3X gene, enabling...
CUL4B Gene Mental retardation, X-linked type 15 NGS Genetic Test
The purpose of the CUL4B Gene Mental Retardation, X-linked Type 15 NGS Genetic Test is to diagnose g...
FGD1 Gene Mental retardation, X-linked type 16 NGS Genetic Test
To detect pathogenic mutations in the FGD1 gene responsible for X-linked mental retardation type 16,...
MECP2 Gene Mental retardation, X-Linked type 13 NGS Genetic Test
The primary purpose of the MECP2 Gene NGS Genetic Test is to diagnose genetic mutations responsible...
UBE2A Gene Mental retardation, X-linked syndromic, Nascimento-type NGS Genetic Test
The purpose of the UBE2A Gene NGS Genetic Test is to detect pathogenic mutations in the UBE2A gene a...
SLC9A6 Gene Mental retardation, X-linked syndromic, Christianson type NGS Genetic Test
The SLC9A6 Gene Christianson Syndrome NGS Genetic Test is performed to identify pathogenic mutations...
EFHC2 Gene Mental retardation, x-linked, EFHC2 related NGS Genetic Test
To detect pathogenic mutations in the EFHC2 gene associated with X-linked mental retardation, enabli...
BRWD3 Gene Mental retardation, X-linked type 93 NGS Genetic Test
The purpose of this test is to diagnose X-linked mental retardation type 93 by detecting mutations i...
NEXMIF Gene Mental retardation, X-linked, nonsyndromic NGS Genetic Test
To diagnose mutations in the NEXMIF gene responsible for X-linked nonsyndromic mental retardation, a...
USP9X Gene Mental retardation, X-linked type 99 NGS Genetic Test
To diagnose USP9X gene-related X-linked intellectual disability type 99 through detection of pathoge...
AFF2 Gene Mental retardation, X-linked, associated with fragile site FRAXE NGS Genetic Test
The purpose of the AFF2 Gene FRAXE NGS Genetic Test is to identify pathogenic mutations, including C...
MAGT1 Gene Mental retardation, X-linked type 95 NGS Genetic Test
The purpose of the MAGT1 Gene Mental Retardation X-linked type 95 NGS Genetic Test is to accurately...
ATP6AP2 Gene Mental retardation, X-linked with epilepsy NGS Genetic Test
The purpose of this test is to diagnose ATP6AP2 gene mutations in individuals presenting with sympto...
GRIA3 Gene Mental retardation, X-linked type 94 NGS Genetic Test
The purpose of this test is to detect mutations in the GRIA3 gene that cause X-linked mental retarda...
ZNF711 Gene Mental retardation, X-linked type 97 NGS Genetic Test
The purpose of the ZNF711 Gene NGS Genetic Test is to diagnose X-Linked Mental Retardation Type 97 b...
PHF8 Gene Mental retardation, X-linked, Siderius type NGS Genetic Test
The purpose of the PHF8 Gene MRXSSD NGS Genetic Test is to detect mutations in the PHF8 gene to conf...
SMS Gene Mental retardation, X-linked, Snyder-Robinson type NGS Genetic Test
The purpose of the SMS Gene NGS Genetic Test is to detect mutations in the SMS gene that cause Snyde...
SOX3 Gene Mental retardation, X-linked, with isolated growth hormone deficiency NGS Genetic Test
The purpose of the SOX3 Gene NGS Genetic Test is to detect genetic mutations in the SOX3 gene that c...
DNAL4 Gene Mirror movements type 3 NGS Genetic Test
The purpose of the DNAL4 Gene Mirror Movements Type 3 NGS Genetic Test is to detect mutations in the...
RYR1 Gene Minicore myopathy with external ophthalmoplegia NGS Genetic Test
The purpose of the RYR1 Gene Minicore Myopathy with External Ophthalmoplegia NGS Genetic Test is to...
UQCRB Gene Mitochondrial complex III deficiency NGS Genetic Test
To identify mutations in the UQCRB gene that cause mitochondrial complex III deficiency, aiding in a...
FASTKD2 Gene Mitochondrial complex IV deficiency NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the FASTKD2 gene that cause Mitochondri...
TTC19 Gene Mitochondrial complex III deficiency, nuclear type 2 NGS Genetic Test
The purpose of this test is to identify mutations in the TTC19 gene that cause mitochondrial complex...
PET100 Gene Mitochondrial complex IV deficiency NGS Genetic Test
The purpose of the PET100 Gene Mitochondrial Complex IV Deficiency NGS Genetic Test is to identify p...
COA8 Gene Mitochondrial complex IV deficiency NGS Genetic Test
The purpose of this test is to identify mutations in the COA8 gene that cause mitochondrial complex...
UQCC2 Gene Mitochondrial complex III deficiency, nuclear type 7 NGS Genetic Test
To identify mutations in the UQCC2 gene for definitive diagnosis of mitochondrial complex III defici...
RAD51 Gene Mirror movements type 2 NGS Genetic Test
The primary purpose of the RAD51 Gene Mirror Movements Type 2 NGS Genetic Test is to confirm the mol...
SDHD Gene Mitochondrial complex II deficiency NGS Genetic Test
To identify mutations in the SDHD gene that cause mitochondrial complex II deficiency, aiding in acc...
BCS1L Gene Mitochondrial complex III deficiency NGS Genetic Test
This test is performed to confirm a genetic diagnosis of mitochondrial Complex III deficiency caused...
MT-CO3 Gene Mitochondrial complex IV deficiency NGS Genetic Test
The purpose of the MT-CO3 Gene Mitochondrial Complex IV Deficiency NGS Genetic Test is to identify p...
COX6B1 Gene Mitochondrial complex IV deficiency NGS Genetic Test
The primary purpose of the COX6B1 Gene NGS Genetic Test is to identify pathogenic mutations in the C...
MGME1 Gene Mitochondrial DNA depletion syndrome type 11 NGS Genetic Test
To identify mutations in the MGME1 gene for definitive diagnosis of Mitochondrial DNA Depletion Synd...
RRM2B Gene Mitochondrial DNA depletion syndrome 8B, MNGIE type NGS Genetic Test
To diagnose RRM2B gene mutations causing mitochondrial DNA depletion syndrome 8B, MNGIE type, enabli...
TWNK Gene Mitochondrial DNA depletion syndrome type 7 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the TWNK gene that cause Mitochondri...
FBXL4 Gene Mitochondrial DNA depletion syndrome type 13 NGS Genetic Test
The purpose of this test is to detect mutations in the FBXL4 gene that cause Mitochondrial DNA Deple...
TK2 Gene Mitochondrial DNA depletion syndrome NGS Genetic Test
To diagnose mutations in the TK2 gene that cause mitochondrial DNA depletion syndrome, aiding in ear...
POLG Gene Mitochondrial DNA depletion syndrome type 4B NGS Genetic Test
To identify pathogenic mutations in the POLG gene that cause mitochondrial DNA depletion syndrome ty...
MPV17 Gene Mitochondrial DNA depletion syndrome type 6 NGS Genetic Test
To detect mutations in the MPV17 gene for the diagnosis of Mitochondrial DNA Depletion Syndrome Type...
CHRNE Gene Myasthenic syndrome, congenital NGS Genetic Test
The purpose of this test is to diagnose congenital myasthenic syndrome caused by mutations in the CH...
EPM2A Gene Myoclonic epilepsy of Lafora NGS Genetic Test
The purpose of the EPM2A Gene Myoclonic Epilepsy of Lafora NGS Genetic Test is to detect mutations i...
CHRNB1 Gene Myasthenic syndrome, congenital NGS Genetic Test
The purpose of this test is to detect mutations in the CHRNB1 gene to confirm congenital myasthenic...
LPIN1 Gene Myoglobinuria acute recurrent NGS Genetic Test
To identify mutations in the LPIN1 gene causing recurrent myoglobinuria for accurate diagnosis, mana...
CHRND Gene Myasthenic syndrome, congenital, type 3A, slow channel NGS Genetic Test
The purpose of this test is to identify mutations in the CHRND gene that cause congenital myasthenic...
NHLRC1 Gene Myoclonic epilepsy of Lafora NGS Genetic Test
The primary purpose of this test is to confirm a clinical diagnosis of Myoclonic Epilepsy of Lafora...
AMPD1 Gene Myopathy due to myoadenylate deaminase deficiency NGS Genetic Test
To diagnose AMPD1 gene mutations causing myoadenylate deaminase deficiency, facilitating early manag...
RAPSN Gene Myasthenic syndrome, congenital, type 11, associated with acetylcholine receptor deficiency NGS Genetic Test
To identify pathogenic mutations in the RAPSN gene that cause congenital myasthenic syndrome type 11...
ITGA7 Gene Myopathy due to Integrin 7A deficiency NGS Genetic Test
The purpose of this test is to identify genetic mutations in the ITGA7 gene that cause Integrin 7A d...
SLC5A7 Gene Myasthenic syndrome, congenital, type 20, presynaptic NGS Genetic Test
The purpose of this genetic test is to identify pathogenic mutations in the SLC5A7 gene responsible...
CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel NGS Genetic Test
This NGS Genetic Test is performed to confirm a clinical diagnosis of congenital myasthenic syndrome...
ACTA1 Gene Myopathy with fiber-type disproportion NGS Genetic Test
The purpose of this test is to identify mutations in the ACTA1 gene that cause myopathy with fiber-t...
MEGF10 Gene Myopathy, areflexia, respiratory distress, and dysphagia, early-onset NGS Genetic Test
The purpose of this NGS Genetic Test is to identify pathogenic variants in the MEGF10 gene to confir...
COL6A6 Gene Myopathy, COL6A6 related NGS Genetic Test
The purpose of the COL6A6 Gene Myopathy NGS Genetic Test is to identify genetic mutations in the COL...
MICU1 Gene Myopathy with extrapyramidal signs NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the MICU1 gene through Next-Generati...
MYH7 Gene Myopathy, distal type 1 NGS Genetic Test
To identify pathogenic mutations in the MYH7 gene for the diagnosis of distal myopathy type 1, aidin...
CHRND Gene Myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency NGS Genetic Test
The purpose of the CHRND Gene Myasthenic Syndrome Type 3C NGS Genetic Test is to identify pathogenic...
STIM1 Gene Myopathy, tubular aggregate, type 1 NGS Genetic Test
This test is performed to identify mutations in the STIM1 gene that cause tubular aggregate myopathy...
CRYAB Gene Myopathy, desmin related, associated with mutation in the CRYAB gene NGS Genetic Test
The purpose of the CRYAB Gene Myopathy NGS Genetic Test is to identify pathogenic or likely pathogen...
MYOT Gene Myotilinopathy NGS Genetic Test
The primary purpose of the MYOT Gene Myotilinopathy NGS Genetic Test is to identify pathogenic or li...
SELENON Gene Myopathy with fiber-type disproportion NGS Genetic Test
The SELENON Gene Myopathy with Fiber-Type Disproportion NGS Genetic Test is performed to identify pa...
WDR45 Gene Neurodegeneration with brain iron accululation type 5 NGS Genetic Test
The purpose of this genetic test is to confirm the diagnosis of neurodegeneration with brain iron ac...
CFL2 Gene Nemaline myopathy type 7 NGS Genetic Test
The purpose of this test is to diagnose Nemaline Myopathy Type 7 by detecting mutations in the CFL2...
KBTBD13 Gene Nemaline myopathy type 6 NGS Genetic Test
To diagnose Nemaline myopathy type 6 by detecting pathogenic mutations in the KBTBD13 gene using NGS...
ACTA1 Gene Nemaline myopathy type 3 NGS Genetic Test
To detect mutations in the ACTA1 gene for the diagnosis of nemaline myopathy type 3, aiding in clini...
FRMPD4 Gene Neurodevelopmental disorder, FRMPD4 related NGS Genetic Test
To identify pathogenic mutations in the FRMPD4 gene associated with neurodevelopmental disorders, ai...
NEB Gene Nemaline myopathy type 2, autosomal recessive NGS Genetic Test
The purpose of the NEB Gene Nemaline Myopathy Type 2 NGS Genetic Test is to detect pathogenic or lik...
APC2 Gene Neurodevelopmental disorder, APC2-related NGS Genetic Test
The purpose of the APC2 Gene Neurodevelopmental Disorder NGS Genetic Test is to identify pathogenic...
NGEF Gene Neurodevelopmental disorder, NGEF related NGS Genetic Test
The purpose of this test is to detect mutations in the NGEF gene using Next-Generation Sequencing (N...
PIGQ Gene Neurodevelopmental disorder, PIGQ related NGS Genetic Test
The purpose of the PIGQ Gene Neurodevelopmental Disorder NGS Genetic Test is to detect pathogenic mu...
SNCA Gene PARK4 Parkinson NGS Genetic Test
The purpose of the SNCA Gene PARK4 Parkinson NGS Genetic Test is to detect pathogenic mutations in t...
FBXO7 Gene PARK15 Parkinson NGS Genetic Test
The purpose of this test is to diagnose PARK15 Parkinson's disease by detecting mutations in the FBX...
PARK7 Gene PARK7 Parkinson NGS Genetic Test
To identify pathogenic or likely pathogenic variants in the PARK7 gene for diagnosis, risk stratific...
DNAJC6 Gene PARK19 Parkinson, juvenile-onset NGS Genetic Test
The primary purpose of the DNAJC6 Gene PARK19 NGS Genetic Test is to identify pathogenic or likely p...
DNAJC13 Gene PARK21 Parkinson NGS Genetic Test
This test is performed to identify pathogenic or likely pathogenic mutations in the DNAJC13 gene tha...
PRKN Gene PARK2 Parkinson NGS Genetic Test
To detect mutations in the PRKN gene for the diagnosis of Parkinson's disease, assess genetic risk,...
PLA2G6 Gene PARK14 Parkinson NGS Genetic Test
The purpose of this test is to detect mutations in the PLA2G6 gene associated with PARK14-linked par...
SYNJ1 Gene PARK20 Parkinson NGS Genetic Test
To diagnose Parkinson's disease caused by mutations in the SYNJ1 gene, enabling personalized treatme...
HTRA2 Gene PARK13 Parkinson NGS Genetic Test
The purpose of the HTRA2 Gene PARK13 Parkinson NGS Genetic Test is to identify mutations in the HTRA...
SNCA Gene PARK1 Parkinson NGS Genetic Test
To detect pathogenic mutations in the SNCA gene associated with an increased risk of Parkinson's dis...
VPS35 Gene PARK17 Parkinson NGS Genetic Test
The primary purpose of the VPS35 Gene PARK17 Parkinson NGS Genetic Test is to identify pathogenic or...
UCHL1 Gene PARK5 Parkinson NGS Genetic Test
The purpose of this test is to identify mutations in the UCHL1 gene that may increase a person's ris...
LRRK2 Gene PARK8 Parkinson NGS Genetic Test
The primary purpose of the LRRK2 Gene PARK8 Parkinson NGS Genetic Test is to identify pathogenic or...
ZFHX4 Gene Ptosis, congenital NGS Genetic Test
To diagnose ZFHX4 gene mutations causing congenital ptosis and guide clinical management.
TANC1 Gene Psychomotor retardation NGS Genetic Test
To identify genetic mutations in the TANC1 gene that cause psychomotor retardation, aiding in diagno...
ALDH7A1 Gene Pyridoxine-dependent epilepsy NGS Genetic Test
To diagnose pyridoxine-dependent epilepsy by identifying mutations in the ALDH7A1 gene through NGS,...
MECP2 Gene Rett syndrome preserved speech variant NGS Genetic Test
The purpose of this test is to detect mutations in the MECP2 gene associated with the preserved spee...
POLG2 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 4, autosomal dominant NGS Genetic Test
To identify pathogenic mutations in the POLG2 gene for diagnosing Progressive external ophthalmopleg...
SELENON Gene Rigid spine muscular dystrophy NGS Genetic Test
To identify mutations in the SELENON gene associated with Rigid Spine Muscular Dystrophy for accurat...
SRPX2 Gene Rolandic epilepsy, mental retardation, and speech dyspraxia NGS Genetic Test
To identify mutations in the SRPX2 gene that cause Rolandic epilepsy, mental retardation, and speech...
CERS1 Gene Progressive myoclonus epilepsy type 8 NGS Genetic Test
The purpose of the CERS1 Gene PME Type 8 NGS Genetic Test is to diagnose Progressive Myoclonus Epile...
PC Gene Pyruvate carboxylase deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the PC gene tha...
CAV3 Gene Rippling muscle disease NGS Genetic Test
The purpose of the CAV3 Gene Rippling Muscle Disease NGS Genetic Test is to confirm diagnosis, ident...
PMP22 Gene Roussy-Levy syndrome NGS Genetic Test
The purpose of this test is to confirm the diagnosis of Roussy-Levy Syndrome by identifying pathogen...
TWNK Gene Progressive external ophthalmoplegia with mitochondrial deletions type 3, autosomal dominant NGS Genetic Test
The primary purpose of this test is to detect pathogenic or likely pathogenic variants in the TWNK g...
PQBP1 Gene Renpenning syndrome NGS Genetic Test
The purpose of the PQBP1 Gene Renpenning Syndrome NGS Genetic Test is to identify pathogenic or like...
NOTCH4 Gene Schizophrenia, NOTCH4 related NGS Genetic Test
To identify genetic variations in the NOTCH4 gene associated with increased risk of schizophrenia, a...
GRID2 Gene Schizophrenia, GRID2 related NGS Genetic Test
The purpose of the GRID2 Gene Schizophrenia NGS Genetic Test is to identify pathogenic or likely pat...
VPS37A Gene SPG53 NGS Genetic Test
To confirm the presence of VPS37A gene mutations for diagnosis of Spastic Paraplegia 53 (SPG53).
C12ORF65 Gene SPG55 NGS Genetic Test
To diagnose hereditary spastic paraplegia type 55 (SPG55) by detecting mutations in the C12ORF65 gen...
USP8 Gene SPG59, USP8 related NGS Genetic Test
To diagnose SPG59 caused by USP8 gene mutations, confirm clinical suspicion, assess genetic risk, an...
NIPA1 Gene SPG6 NGS Genetic Test
To diagnose Spastic Paraplegia Type 6 (SPG6) by identifying pathogenic mutations in the NIPA1 gene t...
AP4S1 Gene SPG52 NGS Genetic Test
To diagnose Hereditary Spastic Paraplegia type 52 (SPG52) by identifying pathogenic mutations in the...
ARL6IP1 Gene SPG61 NGS Genetic Test
To diagnose Hereditary Spastic Paraplegia caused by ARL6IP1 gene mutations and to provide genetic co...
ENTPD1 Gene SPG64 NGS Genetic Test
To diagnose Hereditary Spastic Paraplegia 64 by detecting mutations in the ENTPD1 gene, aiding in cl...
WDR48 Gene SPG60, WDR48 related NGS Genetic Test
The purpose of this test is to identify mutations in the WDR48 gene that cause SPG60, aiding in the...
CYP2U1 Gene SPG56 NGS Genetic Test
The purpose of this test is to detect mutations in the CYP2U1 gene that cause SPG56, aiding in diagn...
TFG Gene SPG57 NGS Genetic Test
To identify pathogenic mutations in the TFG gene for the diagnosis of Hereditary Spastic Paraplegia...
CYP7B1 Gene SPG5A NGS Genetic Test
The primary purpose of the CYP7B1 Gene SPG5A NGS Genetic Test is to confirm or rule out a molecular...
AMPD2 Gene SPG63 NGS Genetic Test
To diagnose Hereditary Spastic Paraplegia Type 63 (SPG63) by detecting pathogenic mutations in the A...
ARSI Gene SPG66, ARSI related NGS Genetic Test
The purpose of this test is to identify mutations in the ARSI gene to confirm the diagnosis of Hered...
DDHD2 Gene SPG54 NGS Genetic Test
The purpose of the DDHD2 Gene SPG54 NGS Genetic Test is to confirm or rule out a molecular diagnosis...
REEP2 Gene SPG72 NGS Genetic Test
The purpose of this test is to detect mutations in the REEP2 gene that cause Hereditary Spastic Para...
ZFR Gene SPG71, ZFR related NGS Genetic Test
The purpose of the ZFR Gene SPG71 NGS Genetic Test is to detect mutations in the ZFR gene associated...
CPT1C Gene SPG73 NGS Genetic Test
The purpose of the CPT1C Gene SPG73 NGS Genetic Test is to identify mutations in the CPT1C gene that...
WASHC5 Gene SPG8 NGS Genetic Test
The purpose of the WASHC5 Gene SPG8 NGS Genetic Test is to diagnose Hereditary Spastic Paraplegia Ty...
FLRT1 Gene SPG68, FLRT1 related NGS Genetic Test
The primary purpose of the FLRT1 Gene SPG68 NGS Genetic Test is to confirm or rule out a molecular d...
MYOT Gene Spheroid body myopathy NGS Genetic Test
To diagnose Spheroid body myopathy by identifying pathogenic mutations in the MYOT gene using next-g...
PRKCG Gene Spinocerebellar ataxia type 14, autosomal dominant NGS Genetic Test
The purpose of the PRKCG Gene Spinocerebellar ataxia type 14 NGS Genetic Test is to diagnose SCA14 b...
KCND3 Gene Spinocerebellar ataxia type 22, autosomal dominant NGS Genetic Test
To diagnose Spinocerebellar ataxia type 22 by detecting mutations in the KCND3 gene using NGS techno...
TTBK2 Gene Spinocerebellar ataxia type 11, autosomal dominant NGS Genetic Test
The purpose of this NGS genetic test is to diagnose Spinocerebellar ataxia type 11 (SCA11) by detect...
TBP Gene Spinocerebellar ataxia type 17, autosomal dominant NGS Genetic Test
To diagnose Spinocerebellar ataxia type 17 by identifying pathogenic mutations in the TBP gene using...
ITPR1 Gene Spinocerebellar ataxia type 29, congenital nonprogressive NGS Genetic Test
The purpose of this test is to diagnose Spinocerebellar Ataxia Type 29 by detecting mutations in the...
EEF2 Gene Spinocerebellar ataxia type 26, autosomal dominant NGS Genetic Test
To detect pathogenic mutations in the EEF2 gene using next-generation sequencing for definitive diag...
AFG3L2 Gene Spinocerebellar ataxia type 28, autosomal dominant NGS Genetic Test
The purpose of this test is to diagnose Spinocerebellar ataxia type 28 (SCA28) by detecting mutation...
WWOX Gene Spinocerebellar ataxia type 12, autosomal recessive NGS Genetic Test
To identify pathogenic mutations in the WWOX gene for the diagnosis of Spinocerebellar ataxia type 1...
BEAN1 Gene Spinocerebellar ataxia type 31, autosomal dominant NGS Genetic Test
The purpose of the BEAN1 Gene NGS Genetic Test is to detect mutations in the BEAN1 gene for confirmi...
KCNC3 Gene Spinocerebellar ataxia type 13, autosomal dominant NGS Genetic Test
The purpose of this genetic test is to confirm the diagnosis of spinocerebellar ataxia type 13 (SCA1...
PDYN Gene Spinocerebellar ataxia type 23, autosomal dominant NGS Genetic Test
To detect pathogenic mutations in the PDYN gene for definitive diagnosis of Spinocerebellar Ataxia T...
ATXN3 Gene Spinocerebellar ataxia type 3, autosomal dominant NGS Genetic Test
The purpose of the ATXN3 Gene NGS Genetic Test is to confirm or rule out a molecular diagnosis of Sp...
GRM1 Gene Spinocerebellar ataxia type 13, autosomal recessive NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic mutations in the GRM1 gene t...
PEX13 Gene Zellweger syndrome NGS Genetic Test
To confirm diagnosis of Zellweger syndrome by identifying mutations in the PEX13 gene, facilitate ge...
PEX14 Gene Zellweger syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the PEX14 gene that cause Zellweger syndrome, e...
PEX12 Gene Zellweger syndrome NGS Genetic Test
To diagnose Zellweger Syndrome and other peroxisomal disorders by identifying mutations in the PEX12...
PEX2 Gene Zellweger syndrome NGS Genetic Test
To diagnose Zellweger syndrome by detecting mutations in the PEX2 gene using NGS technology, enablin...
PEX19 Gene Zellweger syndrome NGS Genetic Test
To diagnose Zellweger syndrome by detecting mutations in the PEX19 gene using Next-Generation Sequen...
PEX16 Gene Zellweger syndrome NGS Genetic Test
To detect mutations in the PEX16 gene for diagnosing Zellweger syndrome, enabling early intervention...
PEX6 Gene Zellweger syndrome NGS Genetic Test
The purpose of the PEX6 Gene Zellweger Syndrome NGS Genetic Test is to identify mutations in the PEX...
PEX10 Gene Zellweger syndrome NGS Genetic Test
The purpose of the PEX10 Gene Zellweger Syndrome NGS Genetic Test is to accurately diagnose Zellwege...
PEX1 Gene Zellweger syndrome NGS Genetic Test
To identify mutations in the PEX1 gene for accurate diagnosis of Zellweger syndrome using advanced n...
ACHE Gene Acetycholinesterase deficiency NGS Genetic Test
To identify genetic mutations in the ACHE gene that cause acetylcholinesterase deficiency, enabling...
MFSD8 Gene Ceroid lipofuscinosis neuronal type 7 NGS Genetic Test
To diagnose MFSD8 Gene Ceroid Lipofuscinosis Neuronal Type 7 through genetic analysis, aiding in cli...
CLN6 Gene Ceroid lipofuscinosis neuronal type 6 NGS Genetic Test
To diagnose Ceroid lipofuscinosis neuronal type 6 by detecting pathogenic mutations in the CLN6 gene...
CTSD Gene Ceroid lipofuscinosis neuronal type 10 NGS Genetic Test
The purpose of the CTSD Gene CLN10 NGS Genetic Test is to identify pathogenic mutations in the CTSD...
CLN3 Gene Ceroid lipofuscinosis neuronal type 3 NGS Genetic Test
The purpose of the CLN3 Gene NGS Genetic Test is to detect mutations in the CLN3 gene to confirm a d...
SLC52A2 Gene Brown-Vialetto-Van Laere syndrome type 2 NGS Genetic Test
To identify mutations in the SLC52A2 gene associated with Brown-Vialetto-Van Laere syndrome type 2,...
SLC52A3 Gene Fazio-Londe disease NGS Genetic Test
The purpose of this test is to detect mutations in the SLC52A3 gene to confirm or rule out Fazio-Lon...
SLC35A3 Gene Arthrogryposis, mental retardation, and seizures NGS Genetic Test
To diagnose mutations in the SLC35A3 gene that cause arthrogryposis, mental retardation, and seizure...
MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic Test
The purpose of the MT-TK Gene MERRF Syndrome NGS Genetic Test is to identify pathogenic mutations in...
MT-TP Gene MERRF syndrome, MT-TP related NGS Genetic Test
To identify mutations in the MT-TP gene associated with MERRF syndrome for diagnosis and management.
COA5 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 3 NGS Genetic Test
The purpose of this test is to diagnose COA5 gene cardioencephalomyopathy by detecting pathogenic mu...
COX15 Gene Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency type 2 NGS Genetic Test
To diagnose COX15 Gene Cardioencephalomyopathy through genetic analysis.
DMD Gene Cardiomyopathy, dilated type 3B NGS Genetic Test
The purpose of this test is to identify mutations in the DMD gene associated with dilated cardiomyop...
MYH7 Gene Cardiomyopathy, familial hypertrophic type 1 NGS Genetic Test
The purpose of the MYH7 Gene Cardiomyopathy NGS Genetic Test is to identify pathogenic mutations in...
ERCC6 Gene De Sanctis-Cacchione syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the ERCC6 gene to diagnose De Sanctis-Cacchione...
LAMC1 Gene Dandy-Walker malformation and occipital cephaloceles, LAMC1 related NGS Genetic Test
The purpose of the LAMC1 Gene NGS Genetic Test is to detect mutations in the LAMC1 gene that cause D...
TBC1D24 Gene DOOR syndrome NGS Genetic Test
The purpose of this test is to diagnose DOOR syndrome by detecting pathogenic mutations in the TBC1D...
LAMB1 Gene Lissencephaly type 5 NGS Genetic Test
The purpose of the LAMB1 Gene Lissencephaly Type 5 NGS Genetic Test is to detect mutations in the LA...
DCX Gene Lissencephaly, X-linked type 1 NGS Genetic Test
To diagnose DCX Gene Lissencephaly, X-linked type 1 by identifying mutations in the DCX gene using n...
RELN Gene Lissencephaly type 2 (Norman-Roberts type) NGS Genetic Test
The purpose of the RELN Gene Lissencephaly type 2 NGS Genetic Test is to diagnose mutations in the R...
CDK5RAP2 Gene Microcephaly, autosomal recessive type 3 NGS Genetic Test
The purpose of the CDK5RAP2 Gene Microcephaly NGS Genetic Test is to identify mutations or variants...
MRE11 Gene Microcephaly, MRE11A related NGS Genetic Test
The purpose of the MRE11A related NGS Genetic Test is to identify mutations in the MRE11 gene that c...
CEP152 Gene Microcephaly, autosomal recessive type 9 NGS Genetic Test
The purpose of the CEP152 Gene Microcephaly NGS Genetic Test is to identify mutations in the CEP152...
MECP2 Gene Rett syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the MECP2 gene for the diagnosis of Rett syndrome...
EMX2 Gene Schizencephaly NGS Genetic Test
To diagnose schizencephaly by identifying mutations in the EMX2 gene using NGS technology, providing...
SPRED1 Gene Neurofibromatosis type 1 -like syndrome NGS Genetic Test
To detect mutations in the SPRED1 gene for the diagnosis of Neurofibromatosis type 1-like syndrome (...
Common Neurological/Neuromuscular Diseases Gene Panel
To diagnose genetic causes of neurological and neuromuscular diseases, enable early intervention, as...
Congenital Myopathy Gene Panel
The purpose of the Congenital Myopathy Gene Panel test is to diagnose congenital myopathy by identif...
Huntington Disease (HD) Mutation Screening
The purpose of HD mutation screening is to detect the presence of expanded CAG repeats in the HTT ge...
HLA-DRB1*1501 Genotyping (Multiple Sclerosis)
The purpose of HLA-DRB1*1501 genotyping is to detect the presence of the HLA-DRB1*1501 gene variant,...
Leigh Syndrome & Mitochondrial Encephalopathy Gene Panel
The purpose of this test is to identify genetic mutations responsible for Leigh Syndrome and Mitocho...
MLC1 Gene Mutation Analysis (Agrawal Mutation)
The purpose of MLC1 Gene Mutation Analysis is to diagnose mutations in the MLC1 gene, including the...
Microcephaly Gene Panel
To identify genetic mutations associated with microcephaly for accurate diagnosis, treatment plannin...
Muscular Dystrophy Gene Panel
To diagnose muscular dystrophy by identifying specific genetic mutations, guide treatment decisions,...
Spino Cerebral Ataxia (SCA - Single Form)
The purpose of this test is to diagnose Spino Cerebral Ataxia by detecting specific gene mutations a...
Spinal Muscular Atrophy Gene Panel
The purpose of the Spinal Muscular Atrophy Gene Panel is to diagnose SMA by identifying mutations in...
Spino Cerebral Ataxia (SCA Panel - 1, 2, 3, 6, 7, 10 & 12)
The purpose of the SCA Panel test is to diagnose specific types of Spinocerebellar Ataxia by detecti...
Reticulocyte Count Test
To confirm or rule out a clinical diagnosis of Rett syndrome by detecting pathogenic mutations in th...
SCA (Spinocerebellar Ataxia) Profile: Any 4 Markers Test
The purpose of the SCA Profile Any 4 Markers Test is to detect pathogenic repeat expansions in selec...
SCA (Spinocerebellar Ataxia): Extended Profile Test
The purpose of the SCA Extended Profile Test is to identify pathogenic repeat expansions in genes th...
SCA-1 (Spinocerebellar Ataxia): ATXN1 Gene Mutation Test
To confirm the clinical diagnosis of spinocerebellar ataxia type 1, to identify mutation carriers in...
SCA (Spinocerebellar Ataxia): Comprehensive Profile Test
The primary purpose of the SCA Comprehensive Profile is to provide a molecular diagnosis for patient...
SCA-11 (Spinocerebellar Ataxia): TTBK2 Gene Mutation Test
To detect a mutation in exon 12 of the TTBK2 gene in order to confirm or exclude the diagnosis of SC...
SCA-12 (Spinocerebellar Ataxia): PPP2R2B Gene Mutation Test
The purpose of this test is to detect a pathogenic CAG repeat expansion in the PPP2R2B gene. This re...
SCA-14 (Spinocerebellar Ataxia): PRKCG Gene Mutation Test
The purpose of the PRKCG gene mutation test is to identify a disease-causing mutation in the PRKCG g...
Spinal Muscular Atrophy (SMA) Mutation Detection Test
The primary purpose of the SMA Mutation Detection Test is to detect the common homozygous deletions...
Spino-Bulbar Muscular Atrophy Test
The purpose of the SBMA test is to detect pathogenic CAG repeat expansion in the AR gene to confirm...
Urea Cycle Disorder Panel Test
The purpose of the Urea Cycle Disorder Panel is to confirm or rule out a urea cycle disorder in pati...
ACO2 Gene Cerebellar-Retinal Degeneration, Infantile NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the ACO2 gene, conf...
ROBO3 Gene Gaze Palsy, Horizontal, with Progressive Scoliosis NGS Genetic Test
To detect disease-causing variants in the ROBO3 gene associated with horizontal gaze palsy with prog...
Amyotrophic Lateral Sclerosis (ALS) Panel NGS Genetic Test
This test is intended to detect pathogenic variants in genes associated with amyotrophic lateral scl...
Ataxia Panel NGS Genetic Test
The purpose of the Ataxia Panel NGS Genetic Test is to detect pathogenic genetic variants and repeat...
Ataxia Comprehensive Panel NGS Genetic Test
The purpose of the Ataxia Comprehensive Panel NGS Genetic Test is to detect pathogenic genetic varia...
NGSNeuro NGS Genetic Test
The primary purpose of the NGSNeuro NGS Genetic Test is to identify the underlying genetic cause of...
Intellectual Disability Panel NGS Genetic Test
The purpose of the Intellectual Disability Panel NGS Genetic Test is to identify pathogenic or likel...
Dementia Panel NGS Genetic Test
To identify inherited genetic causes of dementia, aid in the differential diagnosis, evaluate famili...
Dystonia Panel NGS Genetic Test
To detect disease-causing genetic variants that may explain inherited forms of dystonia. This inform...
Neuromuscular Panel NGS Genetic Test
To identify the genetic cause of neuromuscular disorders, confirm a suspected diagnosis, guide treat...
Epilepsy Panel NGS Genetic Test
The primary purpose of the Epilepsy Panel NGS Genetic Test is to detect pathogenic variants in genes...
Spastic Paraplegia Panel NGS Genetic Test
This test is used to identify inherited genetic causes of hereditary spastic paraplegia in patients...
GFAP Gene Alexander Disease NGS Genetic Test
To detect disease-causing mutations in the GFAP gene using NGS technology, thereby confirming a diag...
ADAR Gene Aicardi-Goutieres Syndrome Type 6 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the ADAR gene that are associated wit...
SLC16A2 Gene Allan-Herndon-Dudley Syndrome NGS Genetic Test
This test is performed to identify pathogenic variants in the SLC16A2 gene in individuals with clini...
Parkinson Disease Panel NGS Genetic Test
The purpose of this test is to examine patient DNA for mutations in genes known to be associated wit...
ATRX Gene Alpha-Thalassemia/Mental Retardation Syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the ATRX gene that are associated with Alpha-thal...
ATP1A2 Gene Alternating Hemiplegia of Childhood Type 1 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the ATP1A2 gene that are associated wit...
ATP1A3 Gene Alternating Hemiplegia of Childhood Type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the ATP1A3 gene that cause alternatin...
NOS3 Gene Alzheimer Disease Type 1 NGS Genetic Test
The purpose of the NOS3 Gene Alzheimer Disease Type 1 NGS Genetic Test is to detect pathogenic mutat...
APP Gene Alzheimer Disease Type 1 NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the APP gene in indi...
APOE Gene Alzheimer Disease Type 2 NGS Genetic Test
The main purpose of this test is to determine an individual's APOE genotype and identify the presenc...
ADAM10 Gene Alzheimer Disease Type 18, Susceptibility to NGS Genetic Test
The purpose of this test is to identify clinically significant variants in the ADAM10 gene that are...
RTN3 Gene Alzheimers Disease, RTN3 Related NGS Genetic Test
The purpose of this NGS genetic test is to identify genetic variations in the RTN3 gene that may inf...
PSEN1 Gene Alzheimer Disease Type 3 NGS Genetic Test
To identify pathogenic variations in the PSEN1 gene using NGS, confirm or rule out a genetic cause o...
TARDBP Gene Amyotrophic Lateral Sclerosis Type 10 NGS Genetic Test
The primary purpose of this NGS genetic test is to detect sequence variants in the TARDBP gene that...
CHGB Gene Amyotrophic Lateral Sclerosis Risk Factor NGS Genetic Test
The purpose of this test is to evaluate the CHGB gene for sequence variants that may be associated w...
FIG4 Gene Amyotrophic Lateral Sclerosis Type 11 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the FIG4 gene associated wi...
GSN Gene Amyloidosis, Finnish Type NGS Genetic Test
The purpose of this test is to identify clinically significant sequence variants in the GSN gene. It...
SIGMAR1 Gene Amyotrophic Lateral Sclerosis Type 16 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the SIGMAR1 gene associated...
OPTN Gene Amyotrophic Lateral Sclerosis Type 12 NGS Genetic Test
To identify pathogenic variants in the OPTN gene associated with Amyotrophic Lateral Sclerosis Type...
VCP Gene Amyotrophic Lateral Sclerosis Type 14 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the VCP gene associated w...
ALS2 Gene Amyotrophic Lateral Sclerosis Type 2, Juvenile NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the ALS2 gene that are as...
ST3GAL5 Gene Amish Infantile Epilepsy Syndrome NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the ST3GAL5 gene....
SOD1 Gene Amyotrophic Lateral Sclerosis Type 1 NGS Genetic Test
The primary purpose of this NGS genetic test is to detect disease-causing mutations in the SOD1 gene...
ANG Gene Amyotrophic Lateral Sclerosis Type 9 NGS Genetic Test
The purpose of the ANG Gene ALS Type 9 NGS Genetic Test is to identify pathogenic variants in the AN...
SETX Gene Amyotrophic Lateral Sclerosis Type 4 NGS Genetic Test
To detect pathogenic variants in the SETX gene associated with ALS Type 4, confirm the genetic cause...
MATR3 Gene Amyotrophic Lateral Sclerosis Type 21 NGS Genetic Test
The purpose of this NGS genetic test is to detect sequence variants in the MATR3 gene that are assoc...
PFN1 Gene Amyotrophic Lateral Sclerosis Type 18 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic and likely pathogenic variants in the P...
VAPB Gene Amyotrophic Lateral Sclerosis Type 8 NGS Genetic Test
To identify disease-causing variants in the VAPB gene associated with Amyotrophic Lateral Sclerosis...
FUS Gene Amyotrophic Lateral Sclerosis Type 6 NGS Genetic Test
The purpose of this test is to identify disease-causing mutations in the FUS gene, confirming or rul...
NEFH Gene Amyotrophic Lateral Sclerosis, Susceptibility to NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the NEFH gene that may increase susce...
SS18L1 Gene Amyotrophic Lateral Sclerosis, CREST Related NGS Genetic Test
To identify pathogenic or likely pathogenic variations in the SS18L1 gene that may contribute to amy...
TRPM7 Gene Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex, Susceptibility to NGS Genetic Test
The purpose of this test is to identify clinically significant variants in the TRPM7 gene that may i...
UBE3A Gene Angelman Syndrome NGS Genetic Test
To confirm or rule out pathogenic variants in the UBE3A gene in individuals with clinical features o...
RABGGTA Gene Autism Spectrum Disorder NGS Genetic Test
The purpose of the RABGGTA gene NGS genetic test is to identify pathogenic mutations in the RABGGTA...
Chr. 15q11 Gene Angelman Syndrome NGS Genetic Test
The purpose of this NGS test is to identify pathogenic variants in the chromosome 15q11 region, espe...
VPS54 Gene Amyotrophic Lateral Sclerosis, VPS54 Related NGS Genetic Test
The purpose of this NGS test is to detect mutations in the VPS54 gene in individuals with clinical s...
MXRA5 Gene Autism Spectrum, MXRA5 Related NGS Genetic Test
The purpose of this NGS genetic test is to identify any pathogenic or likely pathogenic variants in...
GRM7 Gene Autism Spectrum/Hyperactivity/Bipolar Disorder, GRM7 Related NGS Genetic Test
The purpose of this test is to detect sequence variants in the GRM7 gene that may contribute to auti...
9-Sep Gene Amyotrophy Hereditary Neuralgic NGS Genetic Test
The purpose of this test is to confirm or exclude hereditary neuralgic amyotrophy by detecting patho...
NLGN4X Gene Autism Susceptibility, X-Linked Type 2 NGS Genetic Test
The primary purpose of this NGS genetic test is to identify disease-causing mutations in the NLGN4X...
TMLHE Gene Autism Susceptibility, X-Linked Type 6 NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the TMLHE gene that may increase susc...
NLGN3 Gene Autism Susceptibility, X-Linked Type 1 NGS Genetic Test
To identify clinically significant mutations in the NLGN3 gene using next-generation sequencing, sup...
SHANK2 Gene Autism Susceptibility, X-Linked Type 17 NGS Genetic Test
The purpose of this NGS genetic test is to detect sequence variants in the SHANK2 gene that may cont...
EFCAB13 Gene Autism, EFCAB13 Related NGS Genetic Test
The primary purpose of this test is to identify pathogenic variants in the EFCAB13 gene that are ass...
PTCHD1 Gene Autism Susceptibility, X-Linked Type 4 NGS Genetic Test
The purpose of this NGS-based genetic test is to detect pathogenic mutations in the PTCHD1 gene asso...
CELF6 Gene Autism, CELF6 Related NGS Genetic Test
The purpose of the CELF6 gene autism NGS genetic test is to detect sequence variants in the CELF6 ge...
GYG2 Gene Autism, GYG2 Related NGS Genetic Test
The purpose of this test is to detect mutations in the GYG2 gene that may be associated with autism...
FCRL6 Gene Autism, FCRL6 Related NGS Genetic Test
To identify pathogenic or likely pathogenic variants in the FCRL6 gene in individuals with autism or...
MBD1 Gene Autism, MBD1 Related NGS Genetic Test
To detect mutations in the MBD1 gene that may be associated with autism spectrum disorder and to sup...
SLC22A9 Gene Autism, SLC22A9 Related NGS Genetic Test
The purpose of this test is to detect clinically relevant variants in the SLC22A9 gene using NGS tec...
COL6A2 Gene Bethlem Myopathy NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the COL6A2 gene that are r...
COL12A1 Gene Bethlem Myopathy Type 2 NGS Genetic Test
The primary purpose of this test is to identify pathogenic mutations in the COL12A1 gene that cause...
COL6A3 Gene Bethlem Myopathy Type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the COL6A3 gene that cause Bethlem My...
MAOA Gene Brunner Syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the MAOA gene that confirm...
PHF6 Gene Borjeson-Forssman-Lehmann Syndrome NGS Genetic Test
This test is intended to detect pathogenic variants in the PHF6 gene using next-generation sequencin...
CTDP1 Gene Cataracts with Facial Dysmorphism and Neuropathy NGS Genetic Test
The primary purpose of this test is to detect clinically significant mutations in the CTDP1 gene tha...
ASPA Gene Canavan Disease NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the ASPA gene using Next Generat...
RYR1 Gene Central Core Disease NGS Genetic Test
The purpose of the RYR1 Gene Central Core Disease NGS Genetic Test is to confirm a clinical diagnosi...
ATP1A3 Gene CAPOS Syndrome NGS Genetic Test
The purpose of this NGS genetic test is to identify clinically significant variants in the ATP1A3 ge...
PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease NGS Genetic Test
To confirm a clinical diagnosis of congenital central hypoventilation syndrome (CCHS) with or withou...
APP Gene Cerebral Amyloid Angiopathy, APP Related NGS Genetic Test
The purpose of this test is to identify mutations in the APP gene that are associated with cerebral...
ATP2A1 Gene Brody Myopathy NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the AT...
CYP27A1 Gene Cerebrotendinous Xanthomatosis NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the CYP27A1 gene, confirming the diagno...
NSDHL Gene CHILD Syndrome NGS Genetic Test
To confirm the clinical suspicion of CHILD syndrome by detecting a pathogenic mutation in the NSDHL...
GAD1 Gene Cerebral Palsy Type 1, Spastic Quadriplegic NGS Genetic Test
To identify pathogenic variants in the GAD1 gene associated with cerebral palsy type 1, spastic quad...
CIZ1 Gene Cervical Dystonia NGS Genetic Test
The purpose of this test is to identify clinically relevant variants in the CIZ1 gene that may contr...
NKX2-1 Gene Chorea, Hereditary Benign NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the NKX2-1 gene...
VPS13A Gene Choreoacanthocytosis NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the VPS13A gene that cause choreoacan...
KANK1 Gene Cerebral Palsy Type 2, Spastic Quadriplegic NGS Genetic Test
The purpose of this test is to detect disease-associated variants in the KANK1 gene in individuals w...
DYNC1H1 Gene Charcot-Marie-Tooth Disease, Axonal Type 20 NGS Genetic Test
The purpose of this test is to identify a pathogenic DYNC1H1 gene variant in symptomatic patients an...
PMP22 Gene CMT1A NGS Genetic Test
The purpose of this NGS genetic test is to confirm or exclude CMT1A by detecting PMP22 gene duplicat...
LITAF Gene CMT1C NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the LITAF gene that cause Charcot-Mar...
MPZ Gene CMT1B NGS Genetic Test
This NGS genetic test is designed to detect pathogenic variants in the MPZ gene, providing a molecul...
AARS1 Gene CMT2N NGS Genetic Test
To identify disease-causing variants in the AARS1 gene associated with Charcot-Marie-Tooth disease t...
LRSAM1 Gene CMT2P NGS Genetic Test
The purpose of the LRSAM1 Gene CMT2P NGS Genetic Test is to confirm a clinical suspicion of Charcot-...
NDRG1 Gene CMT4D NGS Genetic Test
To detect pathogenic variants in the NDRG1 gene associated with Charcot-Marie-Tooth disease type 4D,...
MPZ Gene CMT4E NGS Genetic Test
The main purpose of this test is to detect mutations in the MPZ gene that cause CMT4E. It aids in co...
CTDP1 Gene CMT4, CTDP1 Related NGS Genetic Test
The purpose of this NGS test is to detect pathogenic or likely pathogenic sequence variants in the C...
EGR2 Gene CMT4E NGS Genetic Test
This NGS-based genetic test is intended to detect pathogenic variants in the EGR2 gene associated wi...
FGD4 Gene CMT4H NGS Genetic Test
The purpose of this test is to detect clinically significant mutations in the FGD4 gene and confirm...
PRX Gene CMT4F NGS Genetic Test
This test is performed to identify pathogenic or likely pathogenic variants in the PRX gene. It is u...
GNB4 Gene CMTDIF NGS Genetic Test
The primary purpose of the GNB4 Gene CMTDIF NGS Genetic Test is to identify pathogenic or likely pat...
GJB1 Gene CMTX1 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the GJB1 gene that cause Charcot-Mari...
HSPB8 Gene CMT2L NGS Genetic Test
The purpose of this NGS-based genetic test is to detect pathogenic variants in the HSPB8 gene, confi...
COX6A1 Gene CMTRID NGS Genetic Test
The primary purpose of this test is to detect pathogenic mutations in the COX6A1 gene to confirm a c...
AIFM1 Gene CMTX4 NGS Genetic Test
To detect pathogenic or likely pathogenic mutations in the AIFM1 gene associated with CMTX4, confirm...
PRPS1 Gene CMTX5 NGS Genetic Test
To confirm the diagnosis of CMTX5 by identifying pathogenic variants in the PRPS1 gene and to provid...
Gene CMT4J NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the FIG4 gene us...
TUBB3 Gene Cortical dysplasia, complex, with other brain malformations, type 1 NGS Genetic Test
To confirm a clinical diagnosis of TUBB3-associated cortical dysplasia type 1, identify the pathogen...
CFL1 Gene Corticobasal Degeneration, CFL1 related NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the CFL1 gene in in...
TUBB2A Gene Cortical dysplasia, complex, with other brain malformations, type 5 NGS Genetic Test
To detect pathogenic or likely pathogenic variants in the TUBB2A gene to confirm a diagnosis of cort...
CNTNAP2 Gene Cortical dysplasia-focal epilepsy syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing variants in the CNTNAP2 gene and c...
CAV3 Gene Creatine phosphokinase, elevated serum NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the CAV3 gene that cause elevated s...
SLC6A8 Gene Creatine deficiency syndrome X-linked NGS Genetic Test
The purpose of this test is to identify disease-causing mutations in the SLC6A8 gene to confirm or r...
IGBP1 Gene Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia NGS Genetic Test
To confirm or rule out a pathogenic variant in the IGBP1 gene in a person with clinical features sug...
PRNP Gene Creutzfeldt-Jakob disease NGS Genetic Test
This test uses Next-Generation Sequencing to identify disease-causing mutations in the PRNP gene ass...
TMCO1 Gene Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome NGS Genetic Test
The purpose of the TMCO1 gene NGS genetic test is to identify pathogenic or likely pathogenic varian...
MT-CO2 Gene Cytochrome c oxidase 2 deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the MT-CO2 gene...
MPZ Gene Dejerine-Sottas disease NGS Genetic Test
The primary purpose of this test is to identify pathogenic mutations in the MPZ gene that cause Deje...
GJB1 Gene Dejerine-Sottas disease NGS Genetic Test
The primary purpose of this NGS genetic test is to identify sequence variants in the GJB1 gene that...
ITM2B Gene Dementia, familial, British type NGS Genetic Test
To confirm the clinical diagnosis of familial British dementia and identify the underlying genetic c...
LAMP2 Gene Danon disease NGS Genetic Test
The purpose of the LAMP2 Gene Danon Disease NGS Genetic Test is to detect pathogenic variants in the...
EGR2 Gene Dejerine-Sottas disease NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the EGR2 gene that cause Dejerine-So...
GRN Gene Dementia, frontotemporal NGS Genetic Test
The purpose of the GRN gene frontotemporal NGS genetic test is to identify pathogenic variants in th...
MAPT Gene Dementia, frontotemporal NGS Genetic Test
This test is used to detect pathogenic variants in the MAPT gene that are associated with frontotemp...
PMP22 Gene Dejerine-Sottas disease NGS Genetic Test
To detect mutations in the PMP22 gene that cause Dejerine-Sottas disease, and to support clinicians...
TARDBP Gene Dementia, frontotemporal NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the TARDBP gene, wh...
GNAQ Gene Developmental delay, GNAQ related NGS Genetic Test
The purpose of this test is to detect mutations in the GNAQ gene that may be associated with develop...
SLC1A4 Gene Developmental delay and microcephaly, SLC1A4 related NGS Genetic Test
To detect clinically significant variants in the SLC1A4 gene that may explain developmental delay, m...
ATN1 Gene Dentatorubral-pallidoluysian atrophy NGS Genetic Test
The purpose of this test is to detect pathogenic variants and CAG repeat expansions in the ATN1 gene...
YARS1 Gene DI-CMTC NGS Genetic Test
The purpose of this test is to detect clinically significant variants in the YARS1 gene that cause D...
MPZ Gene DI-CMTD NGS Genetic Test
The primary purpose of the MPZ Gene DI-CMTD NGS Genetic Test is to detect disease-causing variants i...
SCN9A Gene Dravet syndrome, modifier of NGS Genetic Test
The purpose of this SCN9A gene modifier NGS genetic test is to identify genetic alterations in the S...
FRRS1L Gene Dysautonomia, FRRS1L-related NGS Genetic Test
The purpose of this test is to identify disease-causing mutations in the FRRS1L gene using next-gene...
KMT2C Gene Developmental delay, KMT2C related NGS Genetic Test
The KMT2C-related NGS Genetic Test is performed to identify pathogenic variants in the KMT2C gene th...
ADCY5 Gene Dyskinesia, familial, with facial myokymia NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing variants in the ADCY5 gene in indi...
SCN2A Gene Dravet syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the SCN2A gene associated with Dravet...
ACTB Gene Dystonia juvenile-onset NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the ACTB gene that are as...
PDE10A Gene Dyskinesia, limb and orofacial, infantile-onset NGS Genetic Test
To identify pathogenic variants in the PDE10A gene that may cause infantile-onset limb and orofacial...
PCDH11X Gene Dyslexia NGS Genetic Test
The purpose of this NGS genetic test is to analyze the PCDH11X gene and identify mutations or variat...
GABRG2 Gene Dravet syndrome NGS Genetic Test
To detect disease-causing variants in the GABRG2 gene in suspected Dravet syndrome/SMEI, confirm a c...
TUBB4A Gene DYT4 NGS Genetic Test
The purpose of this test is to confirm or rule out a clinical diagnosis of DYT4 dystonia by identify...
THAP1 Gene DYT6 NGS Genetic Test
The purpose of the THAP1 Gene DYT6 NGS Genetic Test is to confirm or exclude DYT6 dystonia by identi...
KCNB1 Gene Early infantile epileptic encephalopathy type 26 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the KCNB1 gene that are res...
ARX Gene Early infantile epileptic encephalopathy type 1 NGS Genetic Test
The primary purpose of this NGS genetic test is to detect sequence variants in the ARX gene and conf...
GCH1 Gene DYT5A NGS Genetic Test
To identify pathogenic variants in the GCH1 gene associated with DYT5A/Segawa Syndrome and to suppor...
DNM1 Gene Early infantile epileptic encephalopathy type 31 NGS Genetic Test
To detect pathogenic mutations in the DNM1 gene associated with Early Infantile Epileptic Encephalop...
TAF1 Gene DYT3 NGS Genetic Test
To confirm the clinical diagnosis of DYT3 (TAF1-related dystonia-parkinsonism) by detecting pathogen...
SCN2A Gene Early infantile epileptic encephalopathy type 11 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the...
PNKP Gene Early infantile epileptic encephalopathy type 10 NGS Genetic Test
The purpose of this test is to identify disease-causing mutations in the PNKP gene that are responsi...
KCNA2 Gene Early infantile epileptic encephalopathy type 32 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the KCNA2 gene i...
GUF1 Gene Early infantile epileptic encephalopathy type 40 NGS Genetic Test
The purpose of the GUF1 Gene EIEE Type 40 NGS test is to confirm or rule out a genetic mutation in t...
GRIN2D Gene Early infantile epileptic encephalopathy type 46 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the GRIN2D gene that cause Early Infa...
EEF1A2 Gene Early infantile epileptic encephalopathy type 33 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the EEF1A2 gene...
SLC2A1 Gene DYT8 NGS Genetic Test
The primary purpose of the SLC2A1 Gene DYT8 NGS Genetic Test is to confirm or exclude a molecular di...
STXBP1 Gene Early infantile epileptic encephalopathy type 4 NGS Genetic Test
To detect pathogenic mutations in the STXBP1 gene that cause early infantile epileptic encephalopath...
FGF12 Gene Early infantile epileptic encephalopathy type 47 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the FGF12 gene that cause...
GABRB1 Gene Early infantile epileptic encephalopathy type 45 NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the GABRB1 gene that are associated w...
CUX2 Gene Early infantile epileptic encephalopathy type 67 NGS Genetic Test
The primary purpose of the CUX2 gene NGS genetic test is to confirm or rule out a molecular diagnosi...
SPTAN1 Gene Early infantile epileptic encephalopathy type 5 NGS Genetic Test
To detect pathogenic variants in the SPTAN1 gene associated with Early Infantile Epileptic Encephalo...
KCNQ2 Gene Early infantile epileptic encephalopathy type 7 NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing sequence variants in the KCNQ2 gen...
EMD Gene Emery-Dreifuss muscular dystrophy type 1 NGS Genetic Test
This is a single-gene NGS test to identify pathogenic variants in EMD associated with Emery-Dreifuss...
SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 NGS Genetic Test
This test is intended to confirm a clinical diagnosis of Emery-Dreifuss muscular dystrophy type 4 by...
SCN1A Gene Early infantile epileptic encephalopathy type 6 NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the SCN1A gene and p...
ARHGEF9 Gene Early infantile epileptic encephalopathy type 8 NGS Genetic Test
The purpose of this test is to confirm or exclude a molecular diagnosis of Early Infantile Epileptic...
FHL1 Gene Emery-Dreifuss muscular dystrophy type 6 NGS Genetic Test
The primary purpose of this test is to detect disease-causing mutations in the FHL1 gene associated...
PCDH19 Gene Early infantile epileptic encephalopathy type 9 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the...
SYNE2 Gene Emery-Dreifuss muscular dystrophy type 5 NGS Genetic Test
The purpose of this test is to confirm or exclude SYNE2-related Emery-Dreifuss muscular dystrophy ty...
LMNA Gene Emery-Dreifuss muscular dystrophy type 2 NGS Genetic Test
To identify pathogenic or likely pathogenic variants in the LMNA gene in individuals with clinical f...
DNM1L Gene Encephalopathy lethal, due to defective mitochondrial peroxisomal fission NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the DNM1L gene in individuals su...
SLC19A3 Gene Encephalopathy thiamine-responsive NGS Genetic Test
To detect mutations in the SLC19A3 gene that cause thiamine-responsive encephalopathy, enabling earl...
BSCL2 Gene Encephalopathy, progressive, with or without lipodystrophy NGS Genetic Test
The primary purpose of this NGS genetic test is to confirm or rule out a clinical diagnosis of BSCL2...
MECP2 Gene Encephalopathy neonatal severe NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the MECP2 gene, aid...
TRAF3 Gene Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, type 5 NGS Genetic Test
To identify pathogenic variants in the TRAF3 gene associated with acute, infection-induced (herpes-s...
SERPINI1 Gene Encephalopathy, familial, with neuroserpin inclusion bodies NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the SERPINI1 gene associ...
RANBP2 Gene Encephalopathy, acute, necrotizing, type 1 NGS Genetic Test
The purpose is to detect disease-associated variants in the RANBP2 gene in patients with clinical fe...
GRIN2A Gene Epilepsy with neurodevelopmental defects NGS Genetic Test
The purpose of this test is to detect mutations in the GRIN2A gene that are associated with epilepsy...
COLQ Gene Endplate acetylcholinesterase deficiency NGS Genetic Test
The purpose of this test is to confirm or exclude a genetic cause of endplate acetylcholinesterase d...
GABRG2 Gene Epilepsy, childhood absence type 2 NGS Genetic Test
To detect pathogenic variants in the GABRG2 gene associated with childhood absence epilepsy type 2,...
CACNA1H Gene Epilepsy, childhood absence type 6, susceptibility to NGS Genetic Test
The purpose of the CACNA1H gene NGS test is to identify disease-causing variants in the CACNA1H gene...
PLEC Gene Epidermolysis bullosa simplex with muscular dystrophy NGS Genetic Test
The purpose of this test is to detect disease-causing variants in the PLEC gene that are associated...
GABRA1 Gene Epilepsy, childhood absence type 4, susceptibility to NGS Genetic Test
The purpose of this NGS genetic test is to detect sequence variants in the GABRA1 gene that may pred...
COX10 Gene Encephalopathy mitochondrial with proximal renal tubulopathy due to cytochrome c oxidase deficiency NGS Genetic Test
The primary purpose of this NGS genetic test is to identify pathogenic mutations in the COX10 gene,...
GABRB3 Gene Epilepsy, childhood absence type 5 NGS Genetic Test
The purpose of this NGS test is to identify pathogenic or likely pathogenic variants in the GABRB3 g...
RELN Gene Epilepsy, familial temporal lobe type 7 NGS Genetic Test
The purpose of this test is to confirm or rule out the presence of disease-causing mutations in the...
DEPDC5 Gene Epilepsy, familial focal with variable foci NGS Genetic Test
The purpose of this NGS genetic test is to identify clinically significant sequence variants in the...
CPA6 Gene Epilepsy, familial temporal lobe type 5 NGS Genetic Test
The primary purpose of this NGS test is to identify pathogenic or likely pathogenic variants in the...
SCN3A Gene Epilepsy, focal, SCN3A related NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the SCN3A gene associated with focal...
GABRD Gene Epilepsy, idiopathic generalized type 10 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the GABRD gene that are a...
SPATA5 Gene Epilepsy, hearing loss, and mental retardation syndrome NGS Genetic Test
To detect pathogenic variants in the SPATA5 gene that cause a rare autosomal recessive syndrome with...
LGI1 Gene Epilepsy, familial temporal lobe type 1 NGS Genetic Test
The purpose of this test is to identify a pathogenic variant in the LGI1 gene in a person with clini...
CLCN2 Gene Epilepsy, idiopathic generalized type 11 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the CLCN2 gene that cause idiopathic...
SLC2A1 Gene Epilepsy, idiopathic generalized type 12 NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the SLC2A1 gene that cause idiopathic...
HCN2 Gene Epilepsy, HCN2 related NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing variants in the HCN2 gene, confirm...
CHRNA4 Gene Epilepsy, nocturnal frontal lobe type 1 NGS Genetic Test
To detect mutations in the CHRNA4 gene associated with Nocturnal Frontal Lobe Epilepsy Type 1, confi...
KCNT1 Gene Epilepsy, nocturnal frontal lobe NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the KCNT1 gene in in...
SCARB2 Gene Epilepsy, progressive myoclonic type 4, with or without renal failure NGS Genetic Test
To detect pathogenic mutations in the SCARB2 gene to confirm a diagnosis of progressive myoclonic ep...
CHRNB2 Gene Epilepsy, nocturnal frontal lobe type 3 NGS Genetic Test
To identify pathogenic variants in the CHRNB2 gene in individuals with clinical features suggestive...
EFHC1 Gene Epilepsy, juvenile absence type 1 NGS Genetic Test
The EFHC1 gene NGS genetic test is used to detect disease-causing variants in the EFHC1 gene in indi...
SYN1 Gene Epilepsy, X-linked, with learning disabilities and behavior disorders NGS Genetic Test
The purpose of this NGS-based genetic test is to detect pathogenic variants in the SYN1 gene associa...
CHD2 Gene Epileptic encephalopathy, childhood-onset NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the CHD2 gene that may caus...
MAPK10 Gene Epileptic encephalopathy, Lennox-Gastaut type NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing pathogenic or likely pathogenic...
PRICKLE2 Gene Epilepsy, progressive myoclonic type 5 NGS Genetic Test
To identify pathogenic variants in the PRICKLE2 gene using targeted NGS and to confirm the genetic d...
CHRNA2 Gene Epilepsy, nocturnal frontal lobe type 4 NGS Genetic Test
To identify pathogenic or likely pathogenic variants in the CHRNA2 gene in people with clinical susp...
KCNC1 Gene Epilepsy, progressive myoclonic type 7 NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the KCNC1 gene in sy...
KCNA1 Gene Episodic ataxia type 1 NGS Genetic Test
The primary purpose of this NGS genetic test is to identify clinically significant variants in the K...
SLC1A3 Gene Episodic ataxia type 6 NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the SLC1A3 gene th...
CACNB4 Gene Episodic ataxia type 5 NGS Genetic Test
This NGS-based genetic test is performed to identify disease-causing mutations in the CACNB4 gene, w...
CACNA1A Gene Episodic ataxia type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the CACNA1A gene that cause Episodic...
SCN10A Gene Episodic pain syndrome type 2, familial NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the SCN10A gene that are as...
ROBO3 Gene Gaze palsy, horizontal, with progressive scoliosis NGS Genetic Test
This test is performed to identify pathogenic variants in the ROBO3 gene that cause Horizontal Gaze...
SCN1A Gene Generalized epilepsy with febrile seizures plus type 2 NGS Genetic Test
The purpose of the SCN1A gene NGS test is to identify pathogenic mutations in the SCN1A gene that ca...
PRNP Gene Gerstmann-Straussler disease NGS Genetic Test
The purpose is to detect pathogenic variants in the PRNP gene associated with Gerstmann-Straussler d...
GAN Gene Giant axonal neuropathy type 1 NGS Genetic Test
To detect mutations in the GAN gene using NGS, supporting the clinical diagnosis of Giant Axonal Neu...
ITPR1 Gene Gillespie syndrome NGS Genetic Test
To confirm a clinical diagnosis of Gillespie syndrome by identifying pathogenic variants in the ITPR...
AMT Gene Glycine encephalopathy NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing variants in the AMT gene that are...
SLC2A1 Gene GLUT1 deficiency syndrome type 1 NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the SLC2A1 gene. Confirmatory ge...
MGAT2 Gene Glycosylation disorde type 2A NGS Genetic Test
To detect pathogenic variants in the MGAT2 gene that cause Congenital Disorder of Glycosylation Type...
GCSH Gene Glycine encephalopathy NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the GCSH gene to confirm or rule out gl...
GABRG2 Gene Generalized epilepsy with febrile seizures plus type 3 NGS Genetic Test
To detect pathogenic variants in the GABRG2 gene in individuals with clinical features of generalize...
SLC35C1 Gene Glycosylation disorde type 2C NGS Genetic Test
This test is performed to confirm a clinical suspicion of SLC35C1-related congenital disorder of gly...
DPM1 Gene Glycosylation disorder type 1E NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the DPM1 gene to confirm th...
ALG6 Gene Glycosylation disorder type 1C NGS Genetic Test
This test is ordered to confirm or exclude a diagnosis of ALG6 gene glycosylation disorder type 1C i...
DOLK Gene Glycosylation disorder type 1M NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the DOLK gene that cause glycosylation...
DPAGT1 Gene Glycosylation disorder type 1J NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of congenital disorder of glycosylation...
RAB27A Gene Griscelli syndrome type 2 NGS Genetic Test
To confirm a clinical diagnosis of Griscelli syndrome type 2 and identify pathogenic variants in the...
COG1 Gene Glycosylation disorder type 2G NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the COG1 gene that cause Glycosylatio...
SLC35A1 Gene Glycosylation disorder type 2F NGS Genetic Test
The primary purpose is to detect disease-causing variants in the SLC35A1 gene to establish a molecul...
GLB1 Gene GM1-gangliosidosis NGS Genetic Test
The purpose of this test is to detect disease-causing variants in the GLB1 gene that lead to GM1 gan...
B4GALT1 Gene Glycosylation disorder type 2D NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the B4GALT1 gene tha...
TTN Gene Hereditary myopathy with early respiratory failure NGS Genetic Test
To confirm or exclude mutations in the TTN gene associated with Hereditary Myopathy with Early Respi...
FLNA Gene Heterotopia, periventricular, ED variant NGS Genetic Test
The primary purpose of this FLNA gene NGS test is to detect disease-causing pathogenic variants in F...
RNF39 Gene Hippocampal longterm potentiation, RFN39 related NGS Genetic Test
The purpose of this test is to identify, in individuals with appropriate clinical symptoms or family...
DKC1 Gene Hoyeraal-Hreidarsson syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the DKC1 gene, confirm a cl...
COG8 Gene Glycosylation disorder type 2H NGS Genetic Test
The purpose of this test is to detect mutations in the COG8 gene using next-generation sequencing to...
WNK1 Gene HSAN2A NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the WNK1 gene that cause HSAN2A. It is...
RNF216 Gene Gordon Holmes Syndrome NGS Genetic Test
The primary purpose of this test is to confirm a clinical diagnosis of Gordon Holmes syndrome by ide...
ELP1 Gene HSAN3 NGS Genetic Test
The primary purpose of the ELP1 gene HSAN3 NGS Genetic Test is to identify mutations in the ELP1 gen...
TFG Gene Hereditary motor and sensory neuropathy, Okinawa type NGS Genetic Test
To detect pathogenic variants in the TFG gene associated with Hereditary Motor and Sensory Neuropath...
NTRK1 Gene HSAN4 NGS Genetic Test
To detect pathogenic mutations in the NTRK1 gene that cause Hereditary Sensory and Autonomic Neuropa...
PRDM12 Gene HSAN8 NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the PRDM12 gene that are associa...
HTT Gene Huntington disease NGS Genetic Test
To detect CAG trinucleotide repeat expansion in the HTT gene for diagnosis and predictive testing of...
ZDHHC17 Gene Huntington disease, ZDHHC17 related NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic sequence variants in the ZDH...
JPH3 Gene Huntington disease-like type 2 NGS Genetic Test
To detect pathogenic variants in the JPH3 gene, confirming the diagnosis of Huntington disease-like...
PRNP Gene Huntington disease-like type 1 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the PRNP gene to confirm a...
L1CAM Gene Hydrocephalus with aqueductal stenosis and congenital intestinal pseudoobstraction NGS Genetic Test
The purpose of the L1CAM gene NGS genetic test is to identify pathogenic variants in the L1CAM gene...
NGF Gene HSAN5 NGS Genetic Test
The test aims to identify mutations in the NGF gene that are associated with HSAN5, aiding in defini...
SLC6A5 Gene Hyperekplexia NGS Genetic Test
The SLC6A5 gene NGS test is performed to identify disease-causing mutations in individuals with clin...
ARX Gene Hydranencephaly with abnormal genitalia/Lissencephaly X-linked 2 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the ARX gene associated with Hydranence...
MPDZ Gene Hydrocephalus, nonsyndromic, autosomal recessive type 2 NGS Genetic Test
To detect pathogenic variants in the MPDZ gene associated with autosomal recessive nonsyndromic hydr...
GLRB Gene Hyperekplexia NGS Genetic Test
This test is intended to identify pathogenic variants in the GLRB gene, which encodes the glycine re...
GLRA1 Gene Hyperekplexia NGS Genetic Test
To confirm the clinical diagnosis of hyperekplexia by detecting pathogenic variants in the GLRA1 gen...
ARHGEF9 Gene Hyperekplexia, EIEE8 related NGS Genetic Test
To confirm or exclude a pathogenic variant in the ARHGEF9 gene in a patient with clinical features s...
GNE Gene Inclusion body myopathy NGS Genetic Test
The primary purpose of this NGS genetic test is to detect pathogenic mutations in the GNE gene that...
CCDC88C Gene Hydrocephalus, nonsyndromic, autosomal recessive type 1 NGS Genetic Test
To detect pathogenic sequence variants in the CCDC88C gene to confirm a genetic diagnosis of nonsynd...
SCN4A Gene Hyperkalemic periodic paralysis NGS Genetic Test
To identify disease-causing pathogenic variants in the SCN4A gene and confirm a clinical diagnosis o...
CACNA1S Gene Hypokalemic periodic paralysis type 1 NGS Genetic Test
To identify pathogenic variants in the CACNA1S gene that cause hypokalemic periodic paralysis type 1...
CIC Gene Intellectual disability nonsyndromic, CIC related NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the...
PLA2G6 Gene Infantile neuroaxonal dystrophy type 1 NGS Genetic Test
The purpose of this test is to confirm or rule out Infantile Neuroaxonal Dystrophy type 1 caused by...
DARS Gene Hypomyelination with brainstem and spinal cord involvement and leg spasticity NGS Genetic Test
This test is intended to detect clinically significant variants in the DARS gene in patients with su...
MYH2 Gene Inclusion body myopathy NGS Genetic Test
The test is used to identify disease-causing variants in the MYH2 gene and to support the clinical d...
CC2D2A Gene Joubert syndrome type 9 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the CC2D2A gene...
ARL13B Gene Joubert syndrome type 8 NGS Genetic Test
The purpose of this test is to identify disease-causing sequence variants in the ARL13B gene, which...
EXOSC8 Gene Joubert syndrome, EXOSC8 related NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the EXOSC8 gene, which is...
FAM111A Gene Kenny-Caffey syndrome type 2 NGS Genetic Test
To detect pathogenic variants in the FAM111A gene associated with Kenny-Caffey syndrome type 2, conf...
RYR1 Gene King-Denborough syndrome NGS Genetic Test
The purpose of this test is to detect disease-causing mutations in the RYR1 gene associated with Kin...
EXOC8 Gene Joubert syndrome, EXOC8 related NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic sequence variants in the EXOC8...
KDM6A Gene Kabuki syndrome type 2 NGS Genetic Test
The purpose of this test is to confirm or exclude disease-causing mutations in the KDM6A gene in ind...
BCS1L Gene Leigh syndrome NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the BCS1L gene assoc...
NDUFA10 Gene Leigh syndrome NGS Genetic Test
The primary purpose of this NGS genetic test is to confirm or rule out a diagnosis of NDUFA10-relate...
ROGDI Gene Kohlschutter Tonz syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the ROGDI gene responsible...
NDUFA2 Gene Leigh syndrome NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the...
COX15 Gene Leigh syndrome NGS Genetic Test
The purpose of this test is to identify disease-causing pathogenic variants in the COX15 gene using...
NDUFAF1 Gene Leigh syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the ND...
NDUFA9 Gene Leigh syndrome NGS Genetic Test
To detect mutations in the NDUFA9 gene that cause Leigh syndrome and confirm the clinical diagnosis,...
NDUFAF2 Gene Leigh syndrome NGS Genetic Test
A definitive genetic diagnosis helps clinicians confirm NDUFAF2-related Leigh syndrome, provide targ...
NDUFS7 Gene Leigh syndrome NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the NDUFS7 gene that cau...
NDUFAF3 Gene Leigh syndrome NGS Genetic Test
To identify pathogenic or likely pathogenic variants in the NDUFAF3 gene that cause Leigh syndrome....
NDUFS4 Gene Leigh syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the NDUFS4 gene and other...
NDUFAF6 Gene Leigh syndrome NGS Genetic Test
This NGS genetic test is used to identify disease-causing variants in the NDUFAF6 gene, confirm a cl...
NDUFS3 Gene Leigh syndrome NGS Genetic Test
The primary purpose of this test is to identify pathogenic variants in the NDUFS3 gene that cause Le...
NDUFS8 Gene Leigh syndrome NGS Genetic Test
To identify pathogenic variants in the NDUFS8 gene associated with Leigh syndrome and guide clinical...
MT-ND5 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test
The purpose of the MT-ND5 NGS Genetic Test is to confirm or rule out the presence of pathogenic muta...
MT-ND3 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test
The purpose of the MT-ND3 gene NGS genetic test is to detect pathogenic variants in the MT-ND3 gene...
FOXRED1 Gene Leigh syndrome NGS Genetic Test
Targeted NGS analysis of the FOXRED1 gene to identify pathogenic variants associated with Leigh synd...
TACO1 Gene Leigh syndrome due to the mitochondrial complex IV deficiency NGS Genetic Test
The purpose of this test is to detect mutations in the TACO1 gene associated with Leigh syndrome due...
PC Gene Leigh syndrome due to pyruvate carboxylase deficiency NGS Genetic Test
To identify pathogenic variants in the PC gene associated with pyruvate carboxylase deficiency, conf...
GJC2 Gene Leukodystrophy hypomyelinating NGS Genetic Test
The primary purpose of this NGS genetic test is to confirm the clinical diagnosis of hypomyelinating...
AIMP1 Gene Leukodystrophy hypomyelinating type 3 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the AIMP1 gene to confirm a diagnosis o...
PDHA1 Gene Leigh syndrome, X-linked NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the PDHA1 gene associated with X-linked...
HSPD1 Gene Leukodystrophy hypomyelinating type 4 NGS Genetic Test
The purpose of this test is to confirm or exclude a diagnosis of leukodystrophy hypomyelinating type...
HPRT1 Gene Lesch-Nyham syndrome NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the HPRT1 gene, confirm a clinical diag...
LMNB1 Gene Leukodystrophy demyelinating adult-onset, autosomal dominant NGS Genetic Test
The purpose of this test is to confirm or rule out a molecular diagnosis of LMNB1-related adult-onse...
TUBB4A Gene Leukodystrophy hypomyelinating type 6 NGS Genetic Test
To confirm the diagnosis of hypomyelinating leukodystrophy type 6 by identifying pathogenic variants...
POLR3B Gene Leukodystrophy hypomyelinating type 8 NGS Genetic Test
The purpose of this test is to detect pathogenic and likely pathogenic variants in the POLR3B gene i...
POLR3A Gene Leukodystrophy hypomyelinating type 7 NGS Genetic Test
The purpose of this test is to sequence the POLR3A gene and identify clinically significant variants...
SGCB Gene Limb-girdle muscular dystrophy, autosomal recessive type 2E NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the SGCB gene that cause LGMD2E, ther...
DYSF Gene Limb-girdle muscular dystrophy, autosomal recessive type 2B NGS Genetic Test
To confirm the clinical diagnosis of limb-girdle muscular dystrophy type 2B (LGMD2B) by identifying...
RARS Gene Leukodystrophy hypomyelinating type 9 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the RARS1 gene t...
TCAP Gene Limb-Girdle Muscular Dystrophy, autosomal recessive type 2G NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the TCAP gene, confirming the diagnosi...
DARS2 Gene Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the DARS2 gene in individuals wi...
AARS2 Gene Leukoencephalopathy, progressive, with ovarian failure NGS Genetic Test
To identify pathogenic variants in the AARS2 gene in symptomatic patients using next-generation sequ...
TTN Gene Limb-girdle muscular dystrophy, autosomal recessive type 2J NGS Genetic Test
This test is used to confirm a clinical diagnosis of limb-girdle muscular dystrophy autosomal recess...
FKRP Gene Limb-girdle muscular dystrophy, autosomal recessive type 2I NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the FKRP gene that cause limb-girdle...
POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2K NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the POMT1 gene, conf...
TRIM32 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2H NGS Genetic Test
The primary purpose of the TRIM32 gene NGS genetic test is to identify pathogenic mutations in the T...
FKTN Gene Limb-girdle muscular dystrophy, autosomal recessive type 2M NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the FKTN gene assoc...
POMT1 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2N NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the POMT1 gene that are associat...
TRAPPC11 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2S NGS Genetic Test
To identify pathogenic variants in the TRAPPC11 gene that cause Limb-girdle muscular dystrophy, auto...
ANO5 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2L NGS Genetic Test
The primary purpose of this test is to identify bi-allelic pathogenic variants in the ANO5 gene to c...
OCRL Gene Lowe oculocerebrorenal syndrome NGS Genetic Test
The purpose of the OCRL gene NGS genetic test is to identify mutations in the OCRL gene that cause L...
DCX Gene Lissencephaly/Subcortical laminal heteropia, X-linked NGS Genetic Test
To detect mutations in the DCX gene for the diagnosis of X-linked lissencephaly and subcortical band...
MLC1 Gene Megalencephalic leukoencephalopathy with subcortical cysts NGS Genetic Test
To detect pathogenic variants in the MLC1 gene and confirm a molecular diagnosis of Megalencephalic...
KDM5C Gene Mental retardation X-linked, syndromic, Claes-Jensen type NGS Genetic Test
To detect pathogenic sequence variants in the KDM5C gene associated with X-linked syndromic mental r...
MBD5 Gene Mental retardation, autosomal dominant type 1 NGS Genetic Test
To detect pathogenic mutations in the MBD5 gene for confirming a diagnosis of autosomal dominant typ...
SMARCA1 Gene Mental retardation X-linked, SMARCA1 related NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the SMARCA1 gene associated...
EPB41L1 Gene Mental retardation, autosomal dominant type 11 NGS Genetic Test
The primary purpose of this NGS genetic test is to identify pathogenic variants in the EPB41L1 gene...
HEPACAM Gene Megalencephalic leukoencephalopathy with subcortical cysts 2A NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the HEPACAM gene, confirming a diagn...
ARID1A Gene Mental retardation, autosomal dominant type 14 NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the ARID1A gene associated with Menta...
DYNC1H1 Gene Mental retardation, autosomal dominant type 13 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the DYNC1H1 gene associated with Mental...
ARID1B Gene Mental retardation, autosomal dominant type 12 NGS Genetic Test
The purpose of this test is to detect pathogenic sequence variants in the ARID1B gene using next-gen...
SMARCA4 Gene Mental retardation, autosomal dominant type 16 NGS Genetic Test
To identify pathogenic variants in the SMARCA4 gene associated with autosomal dominant mental retard...
TRAPPC9 Gene Mental retardation, autosomal dominant type 13 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the TR...
PACS1 Gene Mental retardation, autosomal dominant type 17 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the PACS1 gene to confirm a...
CTNNB1 Gene Mental retardation, autosomal dominant type 19 NGS Genetic Test
The primary purpose of this NGS genetic test is to identify pathogenic mutations in the CTNNB1 gene...
MEF2C Gene Mental retardation, autosomal dominant type 20 NGS Genetic Test
To detect mutations in the MEF2C gene associated with autosomal dominant mental retardation type 20,...
DOCK8 Gene Mental retardation, autosomal dominant type 2 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the DOCK8 gene in individua...
DEAF1 Gene Mental retardation, autosomal dominant type 24 NGS Genetic Test
The purpose of this DEAF1 gene NGS genetic test is to identify disease-causing mutations in the DEAF...
CDH15 Gene Mental retardation, autosomal dominant type 3 NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the CDH15 gene in in...
POGZ Gene Mental retardation, autosomal dominant type 37 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the POGZ gene to confirm a...
SETD5 Gene Mental retardation, autosomal dominant type 23 NGS Genetic Test
The purpose of this NGS test is to detect pathogenic variants in the SETD5 gene and confirm a molecu...
AHDC1 Gene Mental retardation, autosomal dominant type 25 NGS Genetic Test
The purpose of this test is to detect pathogenic and likely pathogenic variants in the AHDC1 gene th...
SOX11 Gene Mental retardation, autosomal dominant type 27 NGS Genetic Test
This test confirms or excludes a diagnosis of SOX11-related autosomal dominant intellectual disabili...
SYNGAP1 Gene Mental retardation, autosomal dominant type 5 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the SYNGAP1 gene that cause...
PURA Gene Mental retardation, autosomal dominant type 31 NGS Genetic Test
To detect pathogenic or likely pathogenic variants in the PURA gene and support the clinical diagnos...
ADNP Gene Mental retardation, autosomal dominant type 28 NGS Genetic Test
The purpose of the ADNP gene NGS genetic test is to detect a disease-causing variant in the ADNP gen...
GRIN2B Gene Mental retardation, autosomal dominant type 6 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the GR...
DYRK1A Gene Mental retardation, autosomal dominant type 7 NGS Genetic Test
This test is performed to identify pathogenic or likely pathogenic variants in the DYRK1A gene assoc...
GRIN1 Gene Mental retardation, autosomal dominant type 8 NGS Genetic Test
To detect disease-causing variants in the GRIN1 gene by Next-Generation Sequencing in individuals wi...
KIF1A Gene Mental retardation, autosomal dominant type 9 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the KIF1A gene that are a...
ST3GAL3 Gene Mental retardation, autosomal recessive type 12 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the ST3GAL3 gene that cause autosomal...
PRSS12 Gene Mental retardation, autosomal recessive type 1 NGS Genetic Test
To detect disease-causing variants in the PRSS12 gene that are associated with autosomal recessive t...
LINS1 Gene Mental retardation, autosomal recessive type 27 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the LINS1 gene, which are linked to...
CRBN Gene Mental retardation, autosomal recessive type 2 NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing variants in the CRBN gene, confirm...
MAN1B1 Gene Mental retardation, autosomal recessive type 15 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the MAN1B1 gene and to support the cl...
CC2D1A Gene Mental retardation, autosomal recessive type 3 NGS Genetic Test
To detect pathogenic or likely pathogenic variants in the CC2D1A gene in individuals with intellectu...
HERC2 Gene Mental retardation, autosomal recessive type 38 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the HERC2 gene that caus...
ADAT3 Gene Mental retardation, autosomal recessive type 36 NGS Genetic Test
To confirm the clinical diagnosis of ADAT3-related autosomal recessive intellectual disability type...
TECR Gene Mental retardation, autosomal recessive type 14 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the TECR gene and confirm t...
ANK3 Gene Mental retardation, autosomal recessive type 37 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the ANK3 gene and confirm whether the...
TTI2 Gene Mental retardation, autosomal recessive type 39 NGS Genetic Test
To identify pathogenic sequence variants in the TTI2 gene that cause autosomal recessive intellectua...
KPTN Gene Mental retardation, autosomal recessive type 41 NGS Genetic Test
To detect mutations in the KPTN gene associated with autosomal recessive mental retardation type 41,...
TAF2 Gene Mental retardation, autosomal recessive type 40 NGS Genetic Test
The primary purpose of this test is to look for disease-causing variants in the TAF2 gene in an indi...
PGAP1 Gene Mental retardation, autosomal recessive type 42 NGS Genetic Test
The primary purpose of this NGS test is to detect disease-causing variants in the PGAP1 gene to conf...
ARX Gene Mental retardation, X-linked type 29 NGS Genetic Test
To identify pathogenic variants in the ARX gene that cause X-linked mental retardation type 29 and t...
NDST1 Gene Mental retardation, autosomal recessive type 46 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the NDST1 gene in individuals with cl...
RPS6KA3 Gene Mental retardation, X-linked type 19 NGS Genetic Test
The primary purpose is to identify pathogenic variants in the RPS6KA3 gene that confirm or exclude a...
HCFC1 Gene Mental retardation, X-linked type 3 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the HCFC1 gene in individuals suspected...
PAK3 Gene Mental retardation, X-linked type 30 NGS Genetic Test
To identify pathogenic variants in PAK3 and confirm the molecular diagnosis of X-linked type 30 inte...
IL1RAPL1 Gene Mental retardation, X-linked type 21 NGS Genetic Test
To confirm or rule out pathogenic variants in the IL1RAPL1 gene in individuals showing clinical sign...
GDI1 Gene Mental retardation, X-linked type 41 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the GDI1 gene, confirm a c...
FTSJ1 Gene Mental retardation, X-linked type 44 NGS Genetic Test
To detect pathogenic variants in the FTSJ1 gene associated with Mental Retardation, X-linked type 44...
CLIC2 Gene Mental retardation, X-linked type 32 NGS Genetic Test
The purpose of this CLIC2 gene mental retardation, X-linked type 32 NGS genetic test is to identify...
AP1S2 Gene Mental retardation, X-linked type 59 NGS Genetic Test
This test is intended to confirm a clinical diagnosis of AP1S2-related X-linked mental retardation t...
ARHGEF6 Gene Mental retardation, X-linked type 46 NGS Genetic Test
To detect mutations in the ARHGEF6 gene that cause X-linked mental retardation type 46. This test he...
TSPAN7 Gene Mental retardation, X-linked type 58 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the TSPAN7 gene...
RAB39B Gene Mental retardation, X-linked type 72 NGS Genetic Test
To confirm the clinical diagnosis of Mental Retardation, X-linked Type 72 (MRX72) caused by mutation...
ACSL4 Gene Mental retardation, X-linked type 63 NGS Genetic Test
To detect pathogenic variants in the ACSL4 gene in patients suspected of X-linked mental retardation...
ZNF81 Gene Mental retardation, X-linked type 45 NGS Genetic Test
The purpose of this test is to detect disease-causing variants in the ZNF81 gene in individuals pres...
DLG3 Gene Mental retardation, X-linked type 90 NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing sequence variants in the DLG3 gene...
AGTR2 Gene Mental retardation, X-linked type 88, AGTR2 related NGS Genetic Test
The purpose of this NGS genetic test is to look for pathogenic or likely pathogenic variants in the...
MT-TS2 Gene MERRF/MELAS overlap syndrome, MT-TS2 related NGS Genetic Test
The purpose of the MT-TS2 related NGS genetic test is to identify mutations in the MT-TS2 gene that...
MT-TK Gene MERRF syndrome, MT-TK related NGS Genetic Test
To detect pathogenic variants in the MT-TK gene using next-generation sequencing, aiding in the mole...
STAMBP Gene Microcephaly-capillary malformation syndrome NGS Genetic Test
To confirm or rule out a diagnosis of STAMBP-related Microcephaly-Capillary Malformation Syndrome (M...
MT-TS1 Gene MERRF/MELAS overlap syndrome, MT-TS1 related NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the MT-TS1 gene in patients...
MAT1A Gene Methionine adenosyltransferase deficiency, autosomal recessive NGS Genetic Test
This test is performed to confirm the molecular diagnosis of autosomal recessive methionine adenosyl...
ZDHHC15 Gene Mental retardation, X-linked type 91 NGS Genetic Test
The purpose of the ZDHHC15 gene NGS genetic test is to detect pathogenic variants in the ZDHHC15 gen...
MT-ND3 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the MT-ND3 gene that are associated w...
DCC Gene Mirror movements type 1 NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the DCC gene using...
MT-ND2 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this NGS genetic test is to detect clinically significant variants in the MT-ND2 gene...
NDUFA11 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the NDUFA11 gene that are known to caus...
NDUFAF1 Gene Mitochondrial complex I deficiency NGS Genetic Test
To detect pathogenic variants in the NDUFAF1 gene that may cause mitochondrial complex I deficiency...
MT-ND6 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the MT-ND6 gene, confirm a clinical dia...
FOXRED1 Gene Mitochondrial complex I deficiency NGS Genetic Test
This NGS test is ordered to detect sequence variants in FOXRED1 gene and help confirm the clinical d...
NDUFS6 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the...
NDUFS1 Gene Mitochondrial complex I deficiency NGS Genetic Test
To identify pathogenic variants in the NDUFS1 gene that cause mitochondrial complex I deficiency and...
NDUFV2 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this NGS-based genetic test is to identify disease-causing variants in the NDUFV2 gen...
NDUFV1 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the...
ATPAF2 Gene Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 NGS Genetic Test
The purpose of the ATPAF2 gene NGS genetic test is to confirm a clinical suspicion of Mitochondrial...
NDUFS4 Gene Mitochondrial complex I deficiency NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the NDUFS4 gene, which ar...
DGUOK Gene Mitochondrial DNA depletion syndrome NGS Genetic Test
To detect pathogenic variants in the DGUOK gene in order to confirm a diagnosis of DGUOK-related mit...
MFF Gene Mitochondrial encephalomyopathy NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the MFF gene that cause mitochondrial...
SUCLG1 Gene Mitochondrial DNA depletion syndrome, encephalomyopathic type with methylmalonic aciduria NGS Genetic Test
The primary purpose of this test is to identify pathogenic variants in the SUCLG1 gene using NGS tec...
PUS1 Gene Mitochondrial myopathy and sideroblastic anemia type 1 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the PUS1 gene and to support the clinic...
DYSF Gene Miyoshi myopathy NGS Genetic Test
The purpose of the DYSF Gene Miyoshi Myopathy NGS Genetic Test is to detect pathogenic mutations in...
ANO5 Gene Miyoshi muscular dystrophy type 3 NGS Genetic Test
The primary purpose of this NGS genetic test is to identify disease-causing mutations in the ANO5 ge...
TYMP Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy NGS Genetic Test
This test is intended to identify pathogenic variants in the TYMP gene using next-generation sequenc...
ECHS1 Gene Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency NGS Genetic Test
To detect pathogenic variants in the ECHS1 gene that cause mitochondrial short-chain enoyl-CoA hydra...
TIMM21 Gene Mitochondrial respiratory chain disease, TIMM21 related NGS Genetic Test
To detect disease-causing variants in the TIMM21 gene and aid the diagnosis of mitochondrial respira...
PIGT Gene Multiple congenital anomalies-hypotonia-seizures syndrome type 3 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the PIGT gene that cause...
BOLA3 Gene Multiple mitochondrial dysfunctions syndrome type 2 NGS Genetic Test
Identify pathogenic mutations in the BOLA3 gene to confirm the diagnosis of Multiple Mitochondrial D...
POLG Gene Mitochondrial neurogastrointestinal encephalopathy syndrome without leukoencephalopathy NGS Genetic Test
The purpose is to detect pathogenic or likely pathogenic variants in the POLG gene in a patient with...
IBA57 Gene Multiple mitochondrial dysfunctions syndrome type 3 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the IBA57 gene that cause...
POMK Gene Muscle-eye-brain disease, POMK related NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing variants in the POMK gene and esta...
MSTN Gene Muscle hypertrophy NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the MSTN gene that...
DMD Gene Muscular dystrophy, Becker type NGS Genetic Test
The purpose of this test is to detect disease-causing variants in the DMD gene to confirm a clinical...
LARGE1 Gene Muscular dystrophy type 1D NGS Genetic Test
The purpose of this NGS genetic test is to identify clinically significant variants in the LARGE1 ge...
FKRP Gene Muscular dystrophy type 1C NGS Genetic Test
The purpose of this test is to detect mutations in the FKRP gene associated with Muscular Dystrophy...
CHKB Gene Muscular dystrophy, congenital, megaconial type NGS Genetic Test
The primary purpose of this NGS genetic test is to identify disease-causing variants in the CHKB gen...
LMNA Gene Muscular dystrophy, congenital, LMNA related NGS Genetic Test
The purpose of this test is to identify clinically significant variants in the LMNA gene associated...
PLEC Gene Muscular dystrophy, limb-girdle, type 2Q NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the PLEC gene, ther...
LAMA2 Gene Muscular dystrophy type 1A NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the LAMA2 gene that cause...
CAPN3 Gene Muscular dystrophy, limb-girdle type 2A NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the CA...
PABPN1 Gene Muscular dystrophy, oculopharyngeal NGS Genetic Test
This test is performed to confirm or rule out oculopharyngeal muscular dystrophy (OPMD) by identifyi...
RXYLT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A10 NGS Genetic Test
The primary purpose of this test is to detect pathogenic variants in the RXYLT1 gene that cause musc...
B4GAT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the B4GAT1 gene in i...
DMD Gene Muscular dystrophy, Duchenne type NGS Genetic Test
The primary purpose of this DMD gene NGS genetic test is to identify disease-causing sequence varian...
POMGNT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A8 NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of muscular dystrophy-dystroglycanopa...
POMT2 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 NGS Genetic Test
To identify pathogenic mutations in the POMT2 gene to confirm the diagnosis of muscular dystrophy-dy...
POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 NGS Genetic Test
To confirm or exclude a clinical suspicion of congenital muscular dystrophy-dystroglycanopathy type...
POMT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B1 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the POMT1 gene to confirm...
DAG1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C9 NGS Genetic Test
To confirm a clinical diagnosis of DAG1-related limb-girdle muscular dystrophy type C9 by identifyin...
POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3 NGS Genetic Test
This test is ordered when there is clinical suspicion of congenital muscular dystrophy-dystroglycano...
MUSK Gene Myasthenic syndrome associated with acetylcholine receptor deficiency NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the MUSK gene in in...
SCN4A Gene Myasthenic syndrome due to mutation in SCN4A NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the SCN4A gene that are...
CAPN1 Gene Muscular-skeletal disorder, CAPN1 related NGS Genetic Test
To detect mutations in the CAPN1 gene associated with muscular-skeletal disorders, confirming diagno...
GFPT1 Gene Myasthenia congenital with tubular aggregates 1 NGS Genetic Test
The purpose of this test is to confirm the diagnosis of Myasthenia Congenital with Tubular Aggregate...
POMGNT1 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C3 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the POMGNT1 gene that cause...
FLNC Gene Myopathy, distal type 4 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the FLNC gene that cause...
AGRN Gene Myasthenic syndrome, congenital NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the AGRN gene that cause...
CAV3 Gene Myopathy, distal, Tateyama type NGS Genetic Test
To detect pathogenic mutations in the CAV3 gene using next-generation sequencing technology, confirm...
CHRNA1 Gene Myasthenic syndrome, congenital, slow-channel NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the CHRNA1 gene that caus...
DYSF Gene Myopathy, distal with anterior tibial onset NGS Genetic Test
The purpose of the DYSF gene NGS genetic test is to identify disease-causing mutations in the DYSF g...
CHRNA1 Gene Myasthenic syndrome, congenital, fast channel NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the CHRNA1 gene in...
CHAT Gene Myasthenic syndrome, congenital NGS Genetic Test
To confirm or exclude a molecular diagnosis of CHAT-related congenital myasthenic syndrome in indivi...
POMT2 Gene Muscular dystrophy-dystroglycanopathy (limb-girdle), type C2 NGS Genetic Test
To detect disease-causing variants in the POMT2 gene, confirm the molecular diagnosis of muscular dy...
TTN Gene Myopathy, early-onset with fatal cardiomyopathy NGS Genetic Test
To identify disease-causing variants in the TTN gene associated with early-onset myopathy and fatal...
YARS2 Gene Myopathy, lactic acidosis, and sideroblastic anemia type 2 NGS Genetic Test
The purpose of this test is to detect clinically significant sequence variants in the YARS2 gene. It...
DES Gene Myopathy, myofibrillar, Desmin related NGS Genetic Test
The purpose of DES Gene Myopathy NGS Genetic Test is to identify pathogenic variants in the DES gene...
MT-TQ Gene Myopathy, MT-TQ related NGS Genetic Test
The purpose of this NGS genetic test is to detect disease-causing variants in the MT-TQ gene to conf...
BAG3 Gene Myopathy, myofibrillar type 6 NGS Genetic Test
The purpose of the BAG3 gene NGS test is to confirm a clinical diagnosis of myofibrillar myopathy ty...
GFER Gene Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the GFER gene by targeted Next-Genera...
LDB3 Gene Myopathy, myofibrillar, ZASP related NGS Genetic Test
To confirm or rule out a genetic cause of myofibrillar myopathy / ZASP-related myopathy by analysing...
COL6A2 Gene Myosclerosis, autosomal recessive NGS Genetic Test
The primary purpose of this NGS genetic test is to detect mutations in the COL6A2 gene that cause au...
CRYAB Gene Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing sequence variants in the CRYAB g...
MYH7 Gene Myosin storage myopathy NGS Genetic Test
To confirm or exclude a diagnosis of MYH7-related myosin storage myopathy in individuals with sugges...
CLCN1 Gene Myotonia congenita NGS Genetic Test
This test is ordered to confirm a clinical diagnosis of myotonia congenita, document the specific CL...
ACTA1 Gene Myopathy, scapulohumeroperoneal NGS Genetic Test
This test is intended to identify clinically significant variants in the ACTA1 gene in individuals w...
DMPK Gene Myotonic dystrophy type 1 NGS Genetic Test
The purpose of this test is to provide a molecular confirmation of myotonic dystrophy type 1 in a sy...
CNBP Gene Myotonic dystrophy type 2 NGS Genetic Test
The CNBP gene NGS genetic test is performed to identify pathogenic mutations or repeat expansions in...
HCRT Gene Narcolepsy NGS Genetic Test
The purpose of this test is to detect genetic variants in the HCRT gene that are associated with nar...
TPM2 Gene Nemaline myopathy type 4 NGS Genetic Test
The purpose of this NGS genetic test is to detect clinically significant variants in the TPM2 gene a...
MTM1 Gene Myotubular myopathy X-linked NGS Genetic Test
To identify pathogenic variants in the MTM1 gene using next-generation sequencing, helping confirm o...
MT-TV Gene Neonatal death due Leigh syndrome, MT-TV related NGS Genetic Test
To detect pathogenic variants in the MT-TV gene associated with Leigh syndrome and neonatal death ri...
TPM3 Gene Nemaline myopathy type 1 NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the TPM3 gene, whi...
C19orf12 Gene Neurodegeneration with brain iron accumulation type 4 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the C19orf12 gene in indi...
TNNT1 Gene Nemaline myopathy type 5 NGS Genetic Test
The purpose of this test is to confirm or rule out a molecular diagnosis of Nemaline Myopathy Type 5...
COASY Gene Neurodegeneration with brain iron accumulation type 6 NGS Genetic Test
The purpose of this NGS test is to detect disease-causing variants in the COASY gene in a patient wi...
BRAT1 Gene Neurodevelopmental disorder with cerebellar atrophy and with or without seizures NGS Genetic Test
To identify pathogenic variants in the BRAT1 gene to confirm a diagnosis of neurodevelopmental disor...
GTPBP2 Gene Neurodegeneration with brain iron accumulation, GTPBP2 related NGS Genetic Test
The purpose of this NGS genetic test is to detect variants in the GTPBP2 gene that are associated wi...
KIF2A Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test
To detect pathogenic variants in the KIF2A gene associated with neurodevelopmental malformations and...
TUBG1 Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test
To identify pathogenic variants in the TUBG1 gene associated with neurodevelopmental malformations a...
KIF5C Gene Neurodevelopmental malformation and microcephaly NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the KIF5C gene that may be associated...
DES Gene Neurogenic scapuloperoneal syndrome, Kaeser type NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the DES gene, confirming the diagnos...
SPTBN5 Gene Neuronal migration disorder NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the SPTBN5 gene associated with neuro...
CTNNA2 Gene Neuronal migration disorder NGS Genetic Test
To identify disease-causing variants in the CTNNA2 gene using NGS and to provide a genetic diagnosis...
HSPB8 Gene Neuronopathy distal hereditary motor type 2A NGS Genetic Test
To identify pathogenic variants in the HSPB8 gene that cause distal hereditary motor neuropathy type...
EOMES Gene Neuronal migration disorder NGS Genetic Test
The purpose of this test is to sequence the EOMES gene for mutations associated with neuronal migrat...
IGHMBP2 Gene Neuronopathy distal hereditary motor type 6 NGS Genetic Test
The primary purpose of this NGS genetic test is to identify mutations in the IGHMBP2 gene that are r...
HINT1 Gene Neuromyotonia and axonal neuropathy, autosomal recessive NGS Genetic Test
The purpose of this HINT1 gene NGS genetic test is to detect disease-causing variants in the HINT1 g...
SRGAP2 Gene Neuronal migration disorder NGS Genetic Test
The purpose of this test is to identify disease-causing sequence variants in the SRGAP2 gene to supp...
PMP22 Gene Neuropathy with liability to pressure palsies [HNPP] NGS Genetic Test
The purpose of this NGS genetic test is to identify the deletion of the PMP22 gene on chromosome 17p...
HSPB1 Gene Neuronopathy distal hereditary motor type 2B NGS Genetic Test
To confirm or exclude the diagnosis of HSPB1-related distal hereditary motor neuropathy type 2B by i...
DCTN1 Gene Neuronopathy distal hereditary motor type 7B NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the DCTN1 gene and confirm or ex...
GARS1 Gene Neuronopathy distal hereditary motor type 5 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic mutations in the G...
POLG Gene Neuropathy with sensory ataxic, dysarthria, and ophthalmoparesis NGS Genetic Test
To detect pathogenic variants in the POLG gene that are associated with mitochondrial neuropathies,...
BSCL2 Gene Neuropathy, distal hereditary motor, type 5A NGS Genetic Test
To confirm the genetic basis of distal hereditary motor neuropathy type 5A by identifying pathogenic...
CCT5 Gene Neuropathy, hereditary sensory, with spastic paraplegia NGS Genetic Test
The purpose of the CCT5 gene NGS genetic test is to detect pathogenic variants in the CCT5 gene asso...
PNPLA2 Gene Neutral lipid storage disease with myopathy NGS Genetic Test
To confirm the clinical diagnosis of neutral lipid storage disease with myopathy by identifying path...
ATL1 Gene Neuropathy, hereditary sensory, type 1D NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic or likely pathogenic variants in the...
ATL3 Gene Neuropathy, hereditary sensory, type 1F NGS Genetic Test
The purpose of this NGS test is to identify a pathogenic variant in the ATL3 gene that may explain s...
NPC1 Gene Niemann-Pick disease type C1 NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the NPC1 gene using next-generat...
GNE Gene Nonaka myopathy NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the GNE gene, confirming...
NDP Gene Norrie disease NGS Genetic Test
To detect pathogenic variants in the NDP gene by Next Generation Sequencing and to support diagnosis...
SCN9A Gene Neuropathy, hereditary sensory and autonomic type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the SCN9A gene, confirm or exclude SC...
PANK2 Gene Pantothenate kinase-associated neurodegeneration NGS Genetic Test
To confirm a clinical suspicion of PKAN, to identify pathogenic variants in the PANK2 gene, and to a...
MID1 Gene Opitz G syndrome NGS Genetic Test
The primary purpose of the MID1 Gene Opitz G Syndrome NGS Genetic Test is to confirm or rule out Opi...
ALX4 Gene Parietal foramina type 2 NGS Genetic Test
The test is intended to identify disease-causing variants in the ALX4 gene in patients with clinical...
SCN4A Gene Paramyotonia congenita of von Eulenburg NGS Genetic Test
This test aims to identify disease-causing variants in the SCN4A gene to confirm or exclude Paramyot...
ATP7A Gene Occipital horn syndrome NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the ATP7A gene in individuals with clin...
MT-TT Gene Parkinson disease, susceptibility to, MT-TT related NGS Genetic Test
This NGS-based genetic test detects mutations in the MT-TT gene, which has been associated with incr...
GBA Gene Parkinson disease, late-onset, susceptibility to NGS Genetic Test
The primary purpose of this test is to detect pathogenic or likely pathogenic variants in the GBA ge...
ATP6AP2 Gene Parkinsonism with spasticity, X-linked NGS Genetic Test
The purpose of this test is to confirm or exclude a pathogenic variant in the ATP6AP2 gene associate...
PNKD Gene Paroxysmal nonkinesigenic dyskinesia NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the PNKD gene. In...
SOX10 Gene Peripheral demyelinating neuropathy Waardenburg syndrome and Hirschsprung disease NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the SOX10 gene that are responsible f...
SLC6A3 Gene Parkinsonism-Dystonia, infantile NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the SLC6A3 gene in individuals w...
SLC16A2 Gene Pelizaeus-Merzbacher disease NGS Genetic Test
To identify pathogenic mutations in the SLC16A2 (MCT8) gene associated with Allan-Herndon-Dudley syn...
PLP1 Gene Pelizaeus-Merzbacher disease NGS Genetic Test
The purpose of the PLP1 gene NGS genetic test is to confirm or exclude a molecular diagnosis of Peli...
ARFGEF2 Gene Periventricular heterotopia with microcephaly NGS Genetic Test
To confirm a clinical or radiological diagnosis of periventricular heterotopia with microcephaly by...
ARX Gene Partington syndrome NGS Genetic Test
To identify disease-causing variants in the ARX gene in individuals with clinical features suggestiv...
PEX5 Gene Peroxisome biogenesis disorder type 2B NGS Genetic Test
To detect pathogenic sequence variants in the PEX5 gene that are responsible for Peroxisome Biogenes...
PSEN1 Gene Pick disease NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the PSEN1 gene that are ass...
LARS2 Gene Perrault syndrome type 4 NGS Genetic Test
The primary purpose of this NGS genetic test is to identify clinically significant variants in the L...
TREM2 Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the TREM2 gene associated with P...
PGK1 Gene Phosphoglycerate kinase 1 deficiency NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the PGK1 gene, c...
TYROBP Gene Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the TYROBP gene that cau...
RBCK1 Gene Polyglucosan body myopathy type 1 with or without immunodeficiency NGS Genetic Test
To confirm a clinical diagnosis of RBCK1-associated polyglucosan body myopathy type 1, to identify p...
PEX5 Gene Peroxisome biogenesis disorder type 2A NGS Genetic Test
The purpose of this test is to detect disease-causing variants in the PEX5 gene using next-generatio...
TSEN54 Gene Pontocerebellar hypoplasia type 2A NGS Genetic Test
To confirm a clinical suspicion of Pontocerebellar hypoplasia type 2A (PCH2A) by detecting pathogeni...
NR2E1 Gene Polymicrogyria bilateral occipital NGS Genetic Test
The purpose of this NGS genetic test is to identify clinically significant variants in the NR2E1 gen...
TSEN34 Gene Pontocerebellar hypoplasia type 2C NGS Genetic Test
To identify pathogenic mutations in the TSEN34 gene in individuals with clinical suspicion of Pontoc...
TSEN2 Gene Pontocerebellar hypoplasia type 2B NGS Genetic Test
To detect pathogenic variants in the TSEN2 gene and confirm the molecular diagnosis of pontocerebell...
TSEN54 Gene Pontocerebellar hypoplasia type 4 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the TSEN54 gene to confirm or exclude...
CHMP1A Gene Pontocerebellar hypoplasia type 8 NGS Genetic Test
To confirm the clinical diagnosis of Pontocerebellar Hypoplasia Type 8 by identifying pathogenic var...
VPS53 Gene Pontocerebellar hypoplasia type 2E NGS Genetic Test
To confirm a clinical suspicion of Pontocerebellar Hypoplasia Type 2E by detecting disease-causing v...
SEPSECS Gene Pontocerebellar hypoplasia type 2D NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the SE...
RARS2 Gene Pontocerebellar hypoplasia type 6 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the RARS2 gene that cause...
CLP1 Gene Pontocerebellar hypoplasia, type 10 NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the CLP1 gene that cause pontocerebel...
TSEN54 Gene Pontocerebellar hypoplasia type 5 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the TSEN54 gene, confirm a...
COL4A2 Gene Porencephaly type 2 NGS Genetic Test
The purpose of the COL4A2 gene porencephaly type 2 NGS genetic test is to detect pathogenic or likel...
AMPD2 Gene Pontocerebellar hypoplasia, type 9 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the AMPD2 gene that are a...
chr. 15q11 Gene Prader-Willi syndrome NGS Genetic Test
The purpose of this test is to identify genetic variants in chromosome 15q11 that cause Prader-Willi...
SCN4A Gene Potassium-aggravated myotonia NGS Genetic Test
This test is performed to confirm the diagnosis of potassium-aggravated myotonia, identify SCN4A gen...
ALS2 Gene Primary lateral sclerosis, juvenile NGS Genetic Test
This NGS genetic test is intended to detect disease-causing variants in the ALS2 gene that are assoc...
NDN Gene Prader-Willi syndrome NGS Genetic Test
The primary purpose of the NDN Gene Prader-Willi Syndrome NGS Genetic Test is to confirm or exclude...
POLG Gene Progressive external ophthalmoplegia with mitochondrial deletions type 1, autosomal dominant NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the PO...
SLC25A4 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal dominant NGS Genetic Test
The primary purpose of this NGS genetic test is to identify pathogenic variants in the SLC25A4 gene...
SNRPN Gene Prader-Willi syndrome NGS Genetic Test
The purpose of this NGS genetic test is to identify genetic changes in the SNRPN gene and related ge...
RNASEH1 Gene Progressive external ophthalmoplegia with mitochondrial deletions type 2, autosomal recessive NGS Genetic Test
To detect pathogenic variants in the RNASEH1 gene associated with progressive external ophthalmopleg...
RUBCN Gene Salih ataxia NGS Genetic Test
To identify disease-causing variants in the RUBCN gene and confirm a diagnosis of Salih ataxia.
RRM2B Gene Progressive external ophthalmoplegia with mitochondrial deletions type 5, autosomal dominant NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing variants in the RRM2B gene that...
MYH7 Gene Scapuloperoneal myopathy, MYH7 related NGS Genetic Test
The purpose of this test is to confirm the molecular diagnosis of scapuloperoneal myopathy by detect...
PRICKLE1 Gene Progressive myoclonus epilepsy type 1A NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the PRICKLE1 gen...
TH Gene Segawa syndrome, autosomal recessive NGS Genetic Test
This NGS genetic test is performed to detect pathogenic mutations in the TH gene associated with aut...
KCNQ2 Gene Seizures, benign neonatal, type 1 NGS Genetic Test
The purpose of this test is to detect disease-causing variants in the KCNQ2 gene to confirm a diagno...
HSPG2 Gene Schwartz-Jampel syndrome type 1 NGS Genetic Test
The purpose of this test is to detect sequence variants in the HSPG2 gene that can confirm or exclud...
PRRT2 Gene Seizures, benign familial infantile, type 2 NGS Genetic Test
The purpose of this test is to detect disease-causing variants in the PRRT2 gene in individuals with...
KCNJ10 Gene SESAME syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the KCNJ10 gene associated with SESA...
ALDH3A2 Gene Sjogren-Larsson syndrome NGS Genetic Test
The purpose of this test is to detect disease-causing variants in the ALDH3A2 gene and thereby confi...
RAI1 Gene Smith-Magenis syndrome NGS Genetic Test
This NGS genetic test is intended to detect pathogenic variants in the RAI1 gene, confirming the cli...
ARHGEF10 Gene Slowed nerve conduction velocity, autosomanal dominant NGS Genetic Test
To identify pathogenic mutations in the ARHGEF10 gene associated with autosomal dominant slowed nerv...
KCNQ3 Gene Seizures, benign neonatal, type 2 NGS Genetic Test
The purpose of this NGS genetic test is to identify a disease-causing variant in the KCNQ3 gene in i...
KIF1C Gene Spastic ataxia type 2, autosomal recessive NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the KIF1C gene, confirmi...
MARS2 Gene Spastic ataxia type 3, autosomal recessive NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the MARS2 gene that cause spastic ata...
VAMP1 Gene Spastic ataxia type 1, autosomal dominant NGS Genetic Test
The test is used to establish or confirm a molecular diagnosis of spastic ataxia type 1, support cli...
ALS2 Gene Spastic paralysis, infantile onset ascending NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the ALS2 gene that cause Infantile...
AFG3L2 Gene Spastic ataxia type 5, autosomal recessive NGS Genetic Test
The purpose of this NGS genetic test is to identify disease-causing mutations in the AFG3L2 gene in...
SPG11 Gene SPG11 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the SPG11 gene, confirming the clinical...
IBA57 Gene Spastic paraplegia type 74, autosomal recessive NGS Genetic Test
This test is offered to confirm a suspected diagnosis of spastic paraplegia type 74, characterize th...
MTPAP Gene Spastic ataxia type 4, autosomal recessive NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the MTPAP gene, supporting...
ULK2 Gene Smith-Magenis syndrome, ULK2 related NGS Genetic Test
The purpose of this test is to aid in the diagnosis of ULK2-related neurodevelopmental disorders, in...
SACS Gene Spastic ataxia Charlevoix-Saguenay type NGS Genetic Test
The purpose of this test is to identify or exclude pathogenic variants in the SACS gene, confirm a c...
L1CAM Gene SPG1 NGS Genetic Test
The purpose of the L1CAM Gene SPG1 NGS Genetic Test is to detect mutations in the L1CAM gene that ca...
HSPD1 Gene SPG13 NGS Genetic Test
To confirm or exclude a diagnosis of SPG13 in individuals presenting with symptoms of hereditary spa...
KIF5A Gene SPG10 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the KIF5A gene t...
ZFYVE26 Gene SPG15 NGS Genetic Test
The purpose of the ZFYVE26 Gene SPG15 NGS Genetic Test is to confirm or rule out a clinical diagnosi...
PLP1 Gene SPG2 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of hereditary spastic paraplegia type 2...
ERLIN2 Gene SPG18 NGS Genetic Test
The purpose of this test is to detect disease-causing mutations in the ERLIN2 gene to confirm or exc...
BSCL2 Gene SPG17 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the BSCL2 gene i...
SPG21 Gene SPG21 NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants in the SPG21 gene, which is as...
B4GALNT1 Gene SPG26 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the B4GALNT1 gene associated with SPG...
DDHD1 Gene SPG28 NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the DDHD1 gene tha...
KIF1A Gene SPG30 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the KIF1A gene that are associated wi...
PNPLA6 Gene SPG39 NGS Genetic Test
The purpose of the PNPLA6 Gene SPG39 NGS Genetic Test is to confirm or exclude a clinical diagnosis...
FA2H Gene SPG35 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the FA2H gene that cause hereditary spa...
ZFYVE27 Gene SPG33 NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the ZFYVE27 gene a...
SLC33A1 Gene SPG42 NGS Genetic Test
The primary purpose of this NGS genetic test is to detect pathogenic variants in the SLC33A1 gene th...
GJC2 Gene SPG44 NGS Genetic Test
The primary purpose of the GJC2 Gene SPG44 NGS Genetic Test is to detect pathogenic variants in the...
NT5C2 Gene SPG45 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the NT5C2 gene that are associated w...
SPAST Gene SPG4 NGS Genetic Test
The purpose of the SPAST Gene SPG4 NGS Genetic Test is to identify disease-causing variants in the S...
AP4B1 Gene SPG47 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the AP4B1 gene that cause spastic pa...
AR Gene Spinal and bulbar muscular atrophy X-linked NGS Genetic Test
The primary purpose of this test is to confirm or exclude a clinical diagnosis of Spinal and Bulbar...
AP5Z1 Gene SPG48 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the AP5Z1 gene a...
AP4M1 Gene SPG50 NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the AP4M1 gene in individ...
PLEKHG5 Gene Spinal muscular atrophy distal, autosomal recessive type 4 NGS Genetic Test
The purpose of this NGS genetic test is to identify sequence variants in the PLEKHG5 gene that are a...
ATL1 Gene SPG3A NGS Genetic Test
This test is intended to detect mutations in the ATL1 gene associated with hereditary spastic parapl...
TECPR2 Gene SPG49 NGS Genetic Test
The purpose of this test is to identify pathogenic or likely pathogenic variants in the TECPR2 gene...
AP4E1 Gene SPG51 NGS Genetic Test
This test is ordered to confirm or exclude a genetic cause of hereditary spastic paraplegia type 51....
SMN1 Gene Spinal muscular atrophy type 1 NGS Genetic Test
To detect disease-causing variants in the SMN1 gene to support diagnosis of Spinal Muscular Atrophy...
ZNF41 Gene Mental retardation, X-linked type 89 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the ZNF41 gene to confirm a diagnosis...
COL6A1 Gene Bethlem Myopathy NGS Genetic Test
The purpose of the COL6A1 Gene Bethlem Myopathy NGS Genetic Test is to detect mutations in the COL6A...
SMN1 Gene Spinal muscular atrophy type 3 NGS Genetic Test
To detect pathogenic mutations in the SMN1 gene for the diagnosis of Spinal Muscular Atrophy Type 3,...
PRKCH Gene Cerebral Infarction, Susceptibility to NGS Genetic Test
The purpose of this test is to analyze DNA for variations in the PRKCH gene that may indicate an inc...
FLNA Gene Heterotopia, periventricular, X-linked dominant NGS Genetic Test
To diagnose FLNA Gene Heterotopia Periventricular X-Linked Dominant by detecting mutations in the FL...
SLC17A5 Gene Sialuria, finish type NGS Genetic Test
The purpose of the SLC17A5 Gene Sialuria NGS Genetic Test is to diagnose sialuria by detecting mutat...
BICD2 Gene Spinal muscular atrophy, lower extremity, autosomal dominant, type 2 NGS Genetic Test
The purpose of this test is to diagnose Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant...
ATP7A Gene Spinal muscular atrophy, distal, X-linked NGS Genetic Test
To diagnose mutations in the ATP7A gene causing distal X-linked spinal muscular atrophy, confirm cli...
DNAJB2 Gene Spinal muscular atrophy type 5 NGS Genetic Test
The purpose of the DNAJB2 Gene Spinal Muscular Atrophy Type 5 NGS Genetic Test is to identify mutati...
DYNC1H1 Gene Spinal muscular atrophy, lower extremity-predominant type 1, autosomal dominant NGS Genetic Test
To detect mutations in the DYNC1H1 gene for diagnosis of spinal muscular atrophy, lower extremity-pr...
ATP2B3 Gene Spinocerebellar ataxia type 1, X-linked NGS Genetic Test
The purpose of this test is to diagnose Spinocerebellar ataxia type 1 (SCA1) by detecting pathogenic...
ASAH1 Gene Spinal muscular atrophy with progressive myoclonic epilepsy NGS Genetic Test
To detect mutations in the ASAH1 gene associated with Spinal Muscular Atrophy with Progressive Myocl...
PPP2R2B Gene Spinocerebellar ataxia type 12, autosomal dominant NGS Genetic Test
The purpose of this test is to diagnose Spinocerebellar ataxia type 12 by detecting mutations in the...
ATXN1 Gene Spinocerebellar ataxia type 1, autosomal dominant NGS Genetic Test
The purpose of this test is to diagnose Spinocerebellar ataxia type 1 (SCA1) by detecting mutations...
ATXN10 Gene Spinocerebellar ataxia type 10, autosomal dominant NGS Genetic Test
The purpose of the ATXN10 Gene Spinocerebellar ataxia type 10 NGS Genetic Test is to detect mutation...
ANO10 Gene Spinocerebellar ataxia type 10, autosomal recessive NGS Genetic Test
The purpose of the ANO10 Gene Spinocerebellar ataxia type 10 NGS Genetic Test is to detect mutations...
IFRD1 Gene Spinocerebellar ataxia type 18, autosomal dominant NGS Genetic Test
To diagnose Spinocerebellar ataxia type 18 by detecting mutations in the IFRD1 gene using Next-Gener...
CWF19L1 Gene Spinocerebellar ataxia type 17, autosomal recessive NGS Genetic Test
To diagnose Spinocerebellar ataxia type 17 (SCA17) by identifying mutations in the CWF19L1 gene usin...
TMEM240 Gene Spinocerebellar ataxia type 21, autosomal dominant NGS Genetic Test
The purpose of this test is to detect mutations in the TMEM240 gene to confirm diagnosis of Spinocer...
GRID2 Gene Spinocerebellar ataxia type 18, autosomal recessive NGS Genetic Test
The purpose of this test is to identify mutations in the GRID2 gene that cause spinocerebellar ataxi...
NOP56 Gene Spinocerebellar ataxia type 36, autosomal dominant NGS Genetic Test
The purpose of the NOP56 Gene SCA36 NGS Genetic Test is to confirm the diagnosis of Spinocerebellar...
ATXN2 Gene Spinocerebellar ataxia type 2, autosomal dominant NGS Genetic Test
The purpose of the ATXN2 Gene Spinocerebellar Ataxia Type 2 NGS Genetic Test is to diagnose SCA2 by...
PLEKHG4 Gene Spinocerebellar ataxia type 4, autosomal dominant NGS Genetic Test
The purpose of this test is to diagnose Spinocerebellar ataxia type 4 (SCA4) by detecting mutations...
SPTBN2 Gene Spinocerebellar ataxia type 5, autosomal dominant NGS Genetic Test
To diagnose Spinocerebellar ataxia type 5 by detecting pathogenic mutations in the SPTBN2 gene using...
CACNA1A Gene Spinocerebellar ataxia type 6, autosomal dominant NGS Genetic Test
To detect mutations in the CACNA1A gene for the diagnosis of Spinocerebellar Ataxia Type 6, aiding i...
TGM6 Gene Spinocerebellar ataxia type 35, autosomal dominant NGS Genetic Test
The purpose of this test is to confirm the presence of TGM6 gene mutations associated with Spinocere...
SYNE1 Gene Spinocerebellar ataxia type 8, autosomal recessive NGS Genetic Test
To diagnose Spinocerebellar ataxia type 8 by detecting mutations in the SYNE1 gene using Next-Genera...
TDP1 Gene Spinocerebellar ataxia with axonal neuropathy, autosomal recessive NGS Genetic Test
To diagnose Spinocerebellar ataxia with axonal neuropathy, autosomal recessive (SCAN1) by detecting...
ATXN7 Gene Spinocerebellar ataxia type 7, autosomal dominant NGS Genetic Test
The purpose of the ATXN7 Gene SCA7 Genetic Test is to identify mutations in the ATXN7 gene that caus...
ATXN8OS Gene Spinocerebellar ataxia type 8, autosomal dominant NGS Genetic Test
To diagnose Spinocerebellar Ataxia Type 8 by detecting mutations in the ATXN8OS gene using NGS techn...
TPP1 Gene Spinocerebellar ataxia type 7, autosomal recessive NGS Genetic Test
The purpose of this test is to diagnose Spinocerebellar ataxia type 7 by detecting pathogenic mutati...
COQ8A Gene Spinocerebellar ataxia type 9, autosomal rececssive NGS Genetic Test
The purpose of this test is to confirm a diagnosis of Spinocerebellar ataxia type 9 (SCA9) by detect...
SHROOM4 Gene Stocco dos Santos X-linked mental retardation syndrome NGS Genetic Test
To diagnose Stocco dos Santos X-linked mental retardation syndrome by identifying pathogenic variant...
TWNK Gene Spinocerebellar ataxia, infantile-onset NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the TWNK gene that cause infantile-ons...
PDE8B Gene Striatal degeneration NGS Genetic Test
To identify mutations in the PDE8B gene that cause striatal degeneration, aiding in diagnosis, treat...
SLC25A19 Gene Thiamine metabolism dysfunction syndrome 4 progressive polyneuropathy type NGS Genetic Test
To detect pathogenic variants in the SLC25A19 gene for diagnosis of Thiamine Metabolism Dysfunction...
CACNA1S Gene Thyrotoxic periodic paralysis type 1 NGS Genetic Test
The purpose of this test is to identify genetic mutations in the CACNA1S gene that cause thyrotoxic...
TTN Gene Tibial muscular dystrophy, tardive NGS Genetic Test
The purpose of this test is to detect mutations in the TTN gene associated with tibial muscular dyst...
SLITRK1 Gene Tourette syndrome NGS Genetic Test
The purpose of this test is to diagnose Tourette syndrome by detecting mutations in the SLITRK1 gene...
FUS Gene Tremor essential type 4 NGS Genetic Test
The purpose of this test is to detect mutations in the FUS gene that cause essential tremor type 4,...
KCNJ18 Gene Thyrotoxic periodic paralysis type 2 NGS Genetic Test
The purpose of the KCNJ18 Gene Thyrotoxic Periodic Paralysis Type 2 NGS Genetic Test is to identify...
DRD3 Gene Tremor, sssential type 1, hereditary NGS Genetic Test
To diagnose hereditary essential tremor by identifying pathogenic variants in the DRD3 gene through...
TSC1 Gene Tuberous sclerosis NGS Genetic Test
The purpose of this test is to identify mutations in the TSC1 gene to confirm a diagnosis of tuberou...
COL6A1 Gene Ullrich congenital muscular dystrophy NGS Genetic Test
The purpose of this test is to identify mutations in the COL6A1 gene that cause Ullrich Congenital M...
TSC2 Gene Tuberous sclerosis type 2 NGS Genetic Test
The purpose of the TSC2 Gene Tuberous Sclerosis Type 2 NGS Genetic Test is to identify mutations in...
COL6A2 Gene Ullrich congenital muscular dystrophy NGS Genetic Test
The purpose of the COL6A2 Gene Ullrich Congenital Muscular Dystrophy NGS Genetic Test is to identify...
COL6A3 Gene Ullrich congenital muscular dystrophy type 1 NGS Genetic Test
To diagnose Ullrich Congenital Muscular Dystrophy Type 1 by identifying pathogenic mutations in the...
CRB2 Gene Ventriculomegaly with cystic kidney disease NGS Genetic Test
The purpose of the CRB2 Gene NGS Genetic Test is to detect mutations in the CRB2 gene to confirm a d...
COL12A1 Gene Ullrich congenital muscular dystrophy type 2 NGS Genetic Test
The purpose of this test is to diagnose Ullrich congenital muscular dystrophy type 2 by detecting pa...
TTPA Gene Vitamin E familial deficiency NGS Genetic Test
To detect mutations in the TTPA gene for early diagnosis and management of Vitamin E familial defici...
UROC1 Gene Urocanase deficiency NGS Genetic Test
To diagnose urocanase deficiency by identifying pathogenic mutations in the UROC1 gene using NGS tec...
CSTB Gene Unverricht-Lundborg disease NGS Genetic Test
The purpose of this test is to identify mutations in the CSTB gene associated with Unverricht-Lundbo...
SNAI2 Gene Waardenburg syndrome type 2D NGS Genetic Test
To diagnose Waardenburg syndrome type 2D by identifying mutations in the SNAI2 gene using next-gener...
FKRP Gene Walker-Warburg syndrome or muscle-eye-brain disease, FKRP related NGS Genetic Test
To identify mutations in the FKRP gene for diagnosis of Walker-Warburg syndrome or muscle-eye-brain...
CRPPA Gene Walker-Warburg syndrome NGS Genetic Test
To diagnose Walker-Warburg syndrome by detecting mutations in the CRPPA gene using next-generation s...
FKTN Gene Walker-Warburg syndrome NGS Genetic Test
To identify mutations in the FKTN gene for accurate diagnosis of Walker-Warburg Syndrome, enabling e...
RAB3GAP1 Gene Warburg micro syndrome type 1 NGS Genetic Test
To identify mutations in the RAB3GAP1 gene for diagnosis of Warburg Micro Syndrome Type 1, aiding in...
WDR27 Gene WDR27-related brain disorders NGS Genetic Test
The purpose of the WDR27 Gene NGS Genetic Test is to identify mutations in the WDR27 gene that cause...
TLR3 Gene Herpes simplex encephalitis type 2, susceptibility to NGS Genetic Test
To identify genetic variations in the TLR3 gene that may increase susceptibility to Herpes Simplex E...
NF1 Gene Neurofibromatosis type 1 NGS Genetic Test
To detect pathogenic mutations in the NF1 gene for the diagnosis of Neurofibromatosis type 1, aiding...
SPRED1 Gene Neurofibromatosis type 1 -like syndrome NGS Genetic Test
The purpose of the SPRED1 Gene NGS Genetic Test is to diagnose Neurofibromatosis type 1-like syndrom...
NF2 Gene Neurofibromatosis type 2 NGS Genetic Test
To detect mutations in the NF2 gene for diagnosis of Neurofibromatosis type 2.
NEXN Gene Cardiomyopathy, dilated type 1CC NGS Genetic Test
The purpose of the NEXN Gene Cardiomyopathy NGS Genetic Test is to identify mutations in the NEXN ge...
BAG3 Gene Cardiomyopathy, dilated type 1HH NGS Genetic Test
To diagnose BAG3 gene mutations causing dilated cardiomyopathy type 1HH, enabling accurate diagnosis...
TCAP Gene Cardiomyopathy, dilated type 1N NGS Genetic Test
To detect mutations in the TCAP gene associated with dilated cardiomyopathy type 1N for accurate dia...
ACTC1 Gene Cardiomyopathy, dilated type 1R NGS Genetic Test
To diagnose mutations in the ACTC1 gene that cause dilated cardiomyopathy type 1R, enabling early in...
MYH7 Gene Cardiomyopathy, dilated type 1S NGS Genetic Test
The purpose of the MYH7 Gene Cardiomyopathy, Dilated Type 1S NGS Genetic Test is to detect pathogeni...
PSEN1 Gene Cardiomyopathy, dilated type 1U NGS Genetic Test
To detect mutations in the PSEN1 gene that cause dilated cardiomyopathy type 1U, enabling accurate d...
VCL Gene Cardiomyopathy, dilated type 1W NGS Genetic Test
To diagnose VCL Gene Cardiomyopathy Dilated Type 1W by detecting mutations in the VCL gene using NGS...
PRKAG2 Gene Cardiomyopathy, familial hypertrophic type 6 NGS Genetic Test
To detect mutations in the PRKAG2 gene associated with familial hypertrophic cardiomyopathy type 6 f...
MYL3 Gene Cardiomyopathy, familial hypertrophic type 8 NGS Genetic Test
The purpose of the MYL3 Gene Cardiomyopathy NGS Genetic Test is to identify mutations in the MYL3 ge...
PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease NGS Genetic Test
The purpose of this test is to identify mutations in the PHOX2B gene to confirm a diagnosis of centr...
ASCL1 Gene Central hypoventilation syndrome, congenital NGS Genetic Test
The purpose of the ASCL1 gene NGS genetic test is to identify mutations in the ASCL1 gene associated...
MT-TD Gene Mitochondrial myopathy, isolated NGS Genetic Test
To detect pathogenic mutations in the MT-TD gene associated with mitochondrial myopathy, aiding in d...
MT-TM Gene Mitochondrial myopathy, MT-TM related NGS Genetic Test
To identify pathogenic mutations in the MT-TM gene associated with mitochondrial myopathy, enabling...
MT-TA Gene Mitochondrial myopathy, MT-TA related NGS Genetic Test
To detect mutations in the MT-TA gene associated with mitochondrial myopathy, aiding in diagnosis, g...
NOTCH3 Gene CADASIL NGS Genetic Test
To diagnose CADASIL by detecting mutations in the NOTCH3 gene using NGS technology.
PDCD10 Gene Cerebral cavernous malformations type 3 NGS Genetic Test
The purpose of this test is to identify mutations in the PDCD10 gene associated with cerebral cavern...
RNF213 Gene Moyamoya disease type 2, susceptibility to NGS Genetic Test
The purpose of this test is to identify mutations in the RNF213 gene that increase susceptibility to...
ISCU Gene Myopathy with lactic acidosis hereditary NGS Genetic Test
To diagnose mutations in the ISCU gene causing hereditary myopathy with lactic acidosis, enabling ac...
HSD17B10 Gene 17-beta hydroxysteroid dehydrogenase X deficiency NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the HSD17B10 gene to confirm a diagnosi...
AMT Gene Glycine encephalopathy NGS Genetic Test
The purpose of the AMT Gene Glycine Encephalopathy NGS Genetic Test is to identify mutations in the...
OCLN Gene Band-like calcification with simplified gyration and polymicrogyria NGS Genetic Test
The purpose of this test is to diagnose band-like calcification with simplified gyration and polymic...
PDGFRB Gene Basal ganglia calcification type 4 NGS Genetic Test
To diagnose Basal Ganglia Calcification Type 4 by detecting pathogenic mutations in the PDGFRB gene...
PDGFB Gene Basal ganglia calcification type 5, idiopathic NGS Genetic Test
The purpose of this test is to detect mutations in the PDGFB gene associated with basal ganglia calc...
XPR1 Gene Basal ganglia calcification type 6, idiopathic NGS Genetic Test
To identify mutations in the XPR1 gene associated with basal ganglia calcification type 6, enabling...
GDNF Gene Central hypoventilation syndrome, congenital NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the GDNF gene to confirm a diagnosis...
EDN3 Gene Central hypoventilation syndrome, congenital NGS Genetic Test
The purpose of this test is to identify mutations in the EDN3 gene and other genes associated with c...
GPSM2 Gene Chudley-McCullough syndrome NGS Genetic Test
To diagnose Chudley-McCullough Syndrome by identifying mutations in the GPSM2 gene using NGS technol...
TGIF1 Gene Holoprosencephaly type 4 NGS Genetic Test
To diagnose mutations in the TGIF1 gene associated with holoprosencephaly type 4, aiding in clinical...
SIX3 Gene Holoprosencephaly type 2 NGS Genetic Test
The purpose of the SIX3 Gene Holoprosencephaly Type 2 NGS Genetic Test is to identify mutations in t...
DCAF17 Gene Hypogonadism, alopecia, Diabetes mellitus, mental retardation and extrapyramidal syndrome NGS Genetic Test
To confirm a clinical diagnosis of DCAF17-related syndrome, identify the specific genetic mutation,...
PIGV Gene Hyperphosphatasia with mental retardation syndrome type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the PIGV gene that cause Hyperphosph...
SMN1 Gene Spinal muscular atrophy type 4 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the SMN1 gene that cause Spinal Muscula...
PIGO Gene Hyperphosphatasia with mental retardation syndrome type 2 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of HPMRS2 by identifying disease-causing...
HYLS1 Gene Hydrolethalus syndrome NGS Genetic Test
The purpose of the HYLS1 Gene Hydrolethalus Syndrome NGS Genetic Test is to identify pathogenic muta...
PGAP3 Gene Hyperphosphatasia with mental retardation syndrome type 4 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of PGAP3-HPMRS4 by identifying pathogeni...
PIGW Gene Hyperphosphatasia with mental retardation syndrome type 5 NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the PIGW gene that cause Hyperphosp...
EHMT1 Gene Kleefstra syndrome NGS Genetic Test
The primary purpose of this test is to confirm or rule out a diagnosis of Kleefstra syndrome in indi...
MED12 Gene Lujan-Fryns syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the MED12 gene that are associated wi...
RAB3GAP2 Gene Martsolf syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the RAB3GAP2 gene that cause Martsolf syndrome. I...
XK Gene McLeod syndrome with or without chronic granulomatous disease NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the XK gene that cause McLeod syndr...
AKT3 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2 NGS Genetic Test
The primary purpose of the AKT3 NGS Genetic Test is to confirm a clinical diagnosis of Megalencephal...
PIK3R2 Gene Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of MPPH syndrome by identifying pathogen...
DYNC1H1 Gene Mental retardation, autosomal dominant type 13 NGS Genetic Test
The purpose of this test is to identify mutations in the DYNC1H1 gene that cause autosomal dominant...
WDR62 Gene Microcephaly with cortical malformations, autosomal recessive type 2 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of WDR62-related microcephaly with corti...
GFM2 Gene Microcephaly with symplified gyral pattern and insulin-dependant diabetes NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of GFM2-related microcephaly with simpli...
TUBGCP6 Gene Microcephaly and chorioretinopathy with or without mental retardation NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the TUBGCP6 gene that cau...
IER3IP1 Gene Microcephaly with epilepsy and diabetes syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic mutations in the IER3IP1 gene that caus...
SLC25A19 Gene Microcephaly, Amish type NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the SLC25A19 gene that c...
KIF11 Gene Microcephaly with or without chorioretinopathy, Lymphedema, or Mental retardation, MCLMR NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of MCLMR, identify the underlying geneti...
AP4M1 Gene Microcephaly, AP4M1 related NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the AP4M1 gene that are...
MCPH1 Gene Microcephaly, autosomal recessive type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of MCPH1-related microcephaly by identif...
STAC3 Gene Native American myopathy NGS Genetic Test
The purpose of this test is to identify mutations in the STAC3 gene that cause Native American myopa...
SMARCA2 Gene Nicolaides Baraitser syndrome NGS Genetic Test
The purpose of this test is to confirm or rule out Nicolaides-Baraitser Syndrome by detecting pathog...
NRXN1 Gene Pitt-Hopkins syndrome NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of Pitt-Hopkins syndrome by identifyi...
TCF4 Gene Pitt-Hopkins syndrome NGS Genetic Test
The purpose of this test is to confirm a diagnosis of Pitt-Hopkins syndrome in individuals presentin...
STRADA Gene Polyhydramnios, megalencephaly, and symptomatic epilepsy NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the STRADA gene that cause polyhydram...
TUBB2B Gene Polymicrogyria asymmetric NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of asymmetric polymicrogyria by identify...
ADGRG1 Gene Polymicrogyria bilateral frontoparietal NGS Genetic Test
The primary purpose of this test is to identify disease-causing variants in the ADGRG1 gene that are...
TUBA8 Gene Polymicrogyria with optic nerve hypoplasia NGS Genetic Test
The primary purpose of this test is to confirm a clinical diagnosis of TUBA8 gene polymicrogyria wit...
NR2E1 Gene Polymicrogyria bilateral occipital NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the NR2E1 gene that are a...
PI4KA Gene Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the PI4KA gene that cause perisylvi...
COL4A1 Gene Porencephaly, familial NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of COL4A1-related porencephaly, identify...
LAMA1 Gene Poretti-Boltshauser syndrome NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Poretti-Boltshauser syndrome by ident...
EXT2 Gene Seizures, scoliosis, and macrocephaly syndrome NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of EXT2 gene seizures, scoliosis, and...
TANC2 Gene TANC2 related brain disorders NGS Genetic Test
The purpose of this test is to detect mutations in the TANC2 gene that are associated with neurodeve...
KCNH1 Gene Temple-Baraitser syndrome NGS Genetic Test
The primary purpose of this NGS genetic test is to confirm a clinical diagnosis of Temple-Baraitser...
C12orf57 Gene Temtamy syndrome NGS Genetic Test
The purpose of the C12orf57 gene NGS genetic test is to identify pathogenic mutations in the C12orf5...
RAB3GAP2 Gene Warburg micro syndrome type 2 NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of Warburg Micro Syndrome Type 2 by d...
KMT2A Gene Wiedemann-Steiner syndrome NGS Genetic Test
The purpose of this test is to confirm or rule out a clinical diagnosis of Wiedemann-Steiner Syndrom...
Arthrogryposis and Congenital Myasthenic Syndrome Gene Panel
The purpose of this gene panel is to identify the underlying genetic cause in individuals suspected...
Ataxia Gene Panel
The primary purpose of the Ataxia Gene Panel is to identify the underlying genetic cause of ataxia i...
Benign Infantile Epilepsy Gene Panel
The purpose of this gene panel is to identify pathogenic variants in genes known to cause benign inf...
DMD/BMD Mutation Screening (26 Exons)
The primary purpose of DMD/BMD mutation screening is to identify pathogenic variants in the DMD gene...
Dystonia Gene Panel
The purpose of the Dystonia Gene Panel is to detect pathogenic variants in genes associated with her...
DMD/BMD Mutation Screening (26 Exons) [Prenatal]
The purpose of DMD/BMD mutation screening (26 exons) in the prenatal setting is to determine whether...
Early Infantile Epileptic Encephalopathy Gene Panel
The purpose of the EIEE Gene Panel is to identify the underlying genetic cause of early infantile ep...
Hereditary Spastic Paraplegia Gene Panel
The primary purpose of the HSP gene panel is to detect pathogenic variants in genes known to cause h...
MECP2 Full Gene Mutation Analysis (RETT Syndrome)
The purpose of MECP2 Full Gene Mutation Analysis is to confirm or rule out a diagnosis of Rett Syndr...
MPZ Full Length Gene Sequence Analysis (Charcot- Maria-Tooth Disease)
The purpose of this test is to identify pathogenic variants in the MPZ gene that cause Charcot-Marie...
POLG Gene Alper's Syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the POLG gene that cause Alper's synd...
CLN6 Additional Family Members
The purpose of this test is to determine whether additional family members carry the same CLN6 gene...
LGMD NGS Panel
The primary purpose of the LGMD NGS Panel is to identify the specific genetic mutation responsible f...
Limb-Girdle Muscular Dystrophy
The purpose of the LGMD genetic test is to identify pathogenic variants in genes associated with Lim...
Limb-girdle muscular dystrophy (LGMD)
The purpose of this test is to identify pathogenic mutations in genes associated with limb-girdle mu...
GBS Library Preparation
The purpose of GBS Library Preparation is to generate a high-quality genomic library from patient DN...