Neurogenetics
DNA Labs India | Diagnostic Tests
Neurogenetics
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
Huntington Disease Mutation Detection Test
The purpose of the Huntington Disease Mutation Detection Test is to determine the exact number of CA...
Myotonic Dystrophy Type 1 Test
The primary purpose of the Myotonic Dystrophy Type 1 Test is to detect the CTG trinucleotide repeat...
Nx Gen Sequencing: Duchenne & Becker Muscular Dystrophy Test
To identify pathogenic mutations in the DMD gene for accurate diagnosis of Duchenne and Becker Muscu...
Nx Gen Sequencing: Tuberous Sclerosis Complex Test
The primary purpose of the Nx Gen Sequencing test for Tuberous Sclerosis Complex is to provide a def...
MED25 Gene CMT2B2 NGS Genetic Test
The purpose of the MED25 Gene CMT2B2 NGS Genetic Test is to confirm or rule out a molecular diagnosi...
FLNA Gene Intestinal pseudoobstraction, neuronal NGS Genetic Test
The purpose of this test is to identify genetic mutations in the FLNA gene associated with Neuronal...
CNKSR2 Gene Intellectual disability nonsyndromic, CNKSR2 related NGS Genetic Test
The primary purpose of the CNKSR2 Gene NGS Genetic Test is to identify pathogenic or likely pathogen...
TMEM231 Gene Joubert syndrome type 20 NGS Genetic Test
The purpose of the TMEM231 Gene Joubert Syndrome Type 20 NGS Genetic Test is to identify pathogenic...
WDR81 Gene Mental retardation with Cerebellar ataxia and dysequilibrium syndrome type 2 NGS Genetic Test
The purpose of the WDR81 Gene NGS Genetic Test is to identify pathogenic or likely pathogenic mutati...
HSD17B10 Gene Mental retardation, X-linked type 17 NGS Genetic Test
The primary purpose of this test is to identify pathogenic or likely pathogenic mutations in the HSD...
ZNF674 Gene Mental retardation, X-linked type 92 NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic mutations in the ZNF674 gene t...
UQCRQ Gene Mitochondrial complex III deficiency NGS Genetic Test
The purpose of the UQCRQ Gene Mitochondrial Complex III Deficiency NGS Genetic Test is to identify p...
FOLR1 Gene Neurodegeneration due to cerebral folate transport deficiency NGS Genetic Test
To identify mutations in the FOLR1 gene that cause cerebral folate transport deficiency (CFTD), enab...
PINK1 Gene PARK6 Parkinson NGS Genetic Test
The PINK1 Gene PARK6 Parkinson NGS Genetic Test is performed to identify pathogenic or likely pathog...
PPT1 Gene Ceroid lipofuscinosis neuronal type 1 NGS Genetic Test
The primary purpose of the PPT1 Gene CLN1 NGS Genetic Test is to confirm or rule out a molecular dia...
GRN Gene Ceroid lipofuscinosis neuronal type 11 NGS Genetic Test
The purpose of the GRN Gene Ceroid Lipofuscinosis Neuronal Type 11 NGS Genetic Test is to identify p...
SLC52A3 Gene Brown-Vialetto-Van Laere syndrome 1 NGS Genetic Test
The purpose of this test is to detect mutations in the SLC52A3 gene to confirm a diagnosis of Brown-...
TIMM8A Gene Opticoacoustic nerve atrophy with dementia NGS Genetic Test
To detect mutations in the TIMM8A gene for diagnosing Opticoacoustic Nerve Atrophy with Dementia, en...
MAGEL2 Gene Schaaf-Yang syndrome NGS Genetic Test
To identify mutations in the MAGEL2 gene for diagnosis of Schaaf-Yang syndrome, enabling early inter...
Neuronal Ceroid Lipofuscinosis Gene Panel
The purpose of the Neuronal Ceroid Lipofuscinosis Gene Panel is to identify pathogenic genetic mutat...
ITPR1 Gene Gillespie Syndrome NGS Genetic Test
The purpose of this test is to provide a molecular diagnosis for individuals with signs of ITPR1-ass...
Ataxia Repeat Expansion Panel NGS Genetic Test
To detect repeat expansions in genes associated with hereditary ataxia and aid in confirming a genet...
PSEN2 Gene Alzheimer Disease Type 4 NGS Genetic Test
The main purpose of this NGS genetic test is to identify disease-causing variants in the PSEN2 gene....
CHMP2B Gene Amyotrophic Lateral Sclerosis Type 17 NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the CHMP2B gene in individuals w...
UBQLN2 Gene Amyotrophic Lateral Sclerosis, X-Linked Juvenile and Adult-Onset ALS NGS Genetic Test
To identify pathogenic or likely pathogenic variants in the UBQLN2 gene in a patient with features o...
C9orf72 Gene Amyotrophic Lateral Sclerosis with Frontotemporal Dementia NGS Genetic Test
The purpose of this test is to detect disease-associated C9orf72 repeat expansions in patients with...
NTNG1 Gene Autism, NTNG1 Related NGS Genetic Test
The purpose of this test is to detect clinically significant variants in the NTNG1 gene that may be...
ATP10A Gene Autism/Mental Retardation/Angelman Syndrome, Susceptibility to, ATP10A Related NGS Genetic Test
To identify pathogenic or likely pathogenic variants in the ATP10A gene that may increase susceptibi...
NSDHL Gene CK Syndrome NGS Genetic Test
To identify pathogenic mutations in the NSDHL gene that are associated with CK Syndrome, enabling ea...
EGR2 Gene CMT1D NGS Genetic Test
This test is intended for individuals showing clinical features of Charcot-Marie-Tooth disease, for...
GDAP1 Gene CMT2K NGS Genetic Test
This NGS genetic test is intended to analyse the GDAP1 gene coding and splice sites to identify dise...
KARS1 Gene CMTRIB NGS Genetic Test
The KARS1 Gene CMTRIB NGS Genetic Test is used to detect disease-causing variants in the KARS1 gene,...
ITM2B Gene Dementia, familial, Danish type NGS Genetic Test
The purpose of this NGS genetic test is to confirm or exclude a pathogenic mutation in the ITM2B gen...
PRX Gene Dejerine-Sottas disease NGS Genetic Test
To confirm a clinical diagnosis of Dejerine-Sottas disease by identifying pathogenic variants in the...
DNM2 Gene DI-CMTB NGS Genetic Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the DNM2 gene. Suc...
HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the HSPG2 gene that cause Dyssegmenta...
SLC13A5 Gene Early infantile epileptic encephalopathy type 25 NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the SLC13A5 gene, confirm or rul...
SPTLC1 Gene HSAN1 NGS Genetic Test
To identify mutations in the SPTLC1 gene associated with HSAN1, allowing accurate diagnosis, differe...
RETREG1 Gene HSAN2B NGS Genetic Test
The purpose of the RETREG1 Gene HSAN2B NGS Genetic Test is to detect pathogenic or likely pathogenic...
KIF1A Gene HSN2C NGS Genetic Test
The purpose of this NGS genetic test is to detect clinically significant variants in the KIF1A gene...
SCN9A Gene Insensitivity to pain, channelopathy-associated NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the SCN9A gene associated...
MT-ND6 Gene Leigh syndrome due to mitochondrial complex I deficiency NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the MT-ND6 gene that are associated wit...
LRPPRC Gene Leigh syndrome, French-Canadian type NGS Genetic Test
The purpose of this test is to confirm the clinical diagnosis of Leigh syndrome (French-Canadian typ...
LIPT1 Gene Leigh syndrome due to pyruvate and alpha-ketoglutarate dehydrogenase deficiencies, LIPT1 related NGS Genetic Test
To confirm a clinical suspicion of LIPT1-related Leigh syndrome by identifying disease-causing varia...
FAM126A Gene Leukodystrophy hypomyelinating type 5 NGS Genetic Test
The test is intended to detect sequence variants in the FAM126A gene in order to confirm or exclude...
SOBP Gene Mental retardation, anterior maxillary protrusion, and strabismus NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the SOBP gene that cause...
SMARCB1 Gene Mental retardation, autosomal dominant type 15 NGS Genetic Test
To detect sequence variants in the SMARCB1 gene that may be associated with autosomal dominant type...
MED23 Gene Mental retardation, autosomal recessive type 18 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the MED23 gene to confirm or exclude a...
MTAP Gene Myopathy, limb girdle with bone fragility NGS Genetic Test
This NGS genetic test is done to confirm the clinical diagnosis of MTAP gene myopathy, identify path...
SPTLC2 Gene Neuropathy, hereditary sensory and autonomic type 1C NGS Genetic Test
To detect sequence variants in the SPTLC2 gene using NGS and help confirm or exclude a diagnosis of...
DST Gene Neuropathy, hereditary sensory and autonomic type 6 NGS Genetic Test
The test is intended to identify disease-causing variants in the DST gene to establish a molecular d...
SLC2A1 Gene Paroxysmal exercise-induced dyskinesia with epilepsy and/or hemolytic anemia NGS Genetic Test
To detect pathogenic or likely pathogenic variants in the SLC2A1 gene using next generation sequenci...
EXOSC3 Gene Pontocerebellar hypoplasia type 1B NGS Genetic Test
The primary purpose of this NGS genetic test is to identify mutations in the EXOSC3 gene that cause...
VRK1 Gene Pontocerebellar hypoplasia type 1A NGS Genetic Test
The purpose of this single-gene NGS test is to detect mutations in the VRK1 gene that are known to c...
CELSR2 Gene Schizophrenia, CELSR2 related NGS Genetic Test
The purpose is to detect disease-associated sequence variants in the CELSR2 gene that may contribute...
RTN2 Gene SPG12 NGS Genetic Test
To identify disease-causing sequence variants in the RTN2 gene in individuals with clinical features...
SPART Gene SPG20 NGS Genetic Test
The purpose of the SPART Gene SPG20 NGS Genetic Test is to identify pathogenic variants in the SPG20...
C19orf12 Gene SPG43 NGS Genetic Test
To confirm the clinical diagnosis of SPG43 by detecting pathogenic variants in the C19orf12 gene, en...
REEP1 Gene SPG31 NGS Genetic Test
To detect pathogenic variants in the REEP1 gene and confirm a clinical diagnosis of hereditary spast...
BCAP31 Gene Deafness, dystonia, and cerebral hypomyelination, X-linked NGS Genetic Test
To identify pathogenic mutations in the BCAP31 gene for diagnosis of X-linked deafness, dystonia, an...
ERCC8 Gene Cockayne syndrome type A NGS Genetic Test
The purpose of the ERCC8 Gene Cockayne Syndrome Type A NGS Genetic Test is to confirm a diagnosis of...
ZIC2 Gene Holoprosencephaly type 5 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the ZIC2 gene to confirm a diagnosis of...