Rare Disease Diagnostics
DNA Labs India | Diagnostic Tests
Rare Disease Diagnostics
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
KIAA0586 Gene Joubert syndrome type 23 NGS Genetic Test
To diagnose Joubert Syndrome Type 23 by identifying mutations in the KIAA0586 gene through NGS techn...
CAT Gene Acatalasemia NGS Genetic Test
To diagnose acatalasemia by sequencing the CAT gene and identifying pathogenic mutations, aiding in...
BLM Gene Bloom syndrome NGS Genetic Test
The purpose of the BLM Gene Bloom Syndrome NGS Genetic Test is to identify mutations in the BLM gene...
FANCC Gene Fanconi anemia type C NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the FANCC gene to diagnose Fanconi A...
FANCI Gene Fanconi anemia type I NGS Genetic Test
The purpose of this test is to confirm a diagnosis of Fanconi Anemia Type I by identifying mutations...
DPM3 Gene Glycosylation disorder type 1O NGS Genetic Test
The purpose of this test is to detect mutations in the DPM3 gene to diagnose Glycosylation Disorder...
BCKDHA Gene Maple syrup urine disease type 1a NGS Genetic Test
The purpose of this test is to diagnose Maple Syrup Urine Disease Type 1a by identifying mutations i...
TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic Test
To detect pathogenic mutations in the TPI1 gene for accurate diagnosis of triosephosphate isomerase...
PTPN23 Gene Ciliogenesis related disorder NGS Genetic Test
To identify pathogenic mutations in the PTPN23 gene for diagnosis and management of ciliogenesis rel...
FLNA Gene Otopaladigital syndrome type 2 NGS Genetic Test
To diagnose Otopaladigital Syndrome Type 2 by identifying mutations in the FLNA gene using NGS techn...
GJB2 Gene Keratitis ichthyosis deafness syndrome autosomal dominant NGS Genetic Test
To identify mutations in the GJB2 gene for diagnosis of Keratitis Ichthyosis Deafness Syndrome (KID...
PIEZO2 Gene Arthrogryposis, distal, type 5 NGS Genetic Test
The purpose of this test is to identify mutations in the PIEZO2 gene to confirm a diagnosis of Arthr...
PIEZO2 Gene Arthrogryposis, distal, type 3 NGS Genetic Test
The purpose of the PIEZO2 Gene NGS Genetic Test is to diagnose distal arthrogryposis type 3 by detec...
ECEL1 Gene Arthrogryposis, distal, type 5D NGS Genetic Test
The purpose of the ECEL1 Gene Arthrogryposis, distal, type 5D NGS Genetic Test is to identify pathog...
VPS33B Gene Arthrogryposis, renal dysfunction, and cholestasis type 1 NGS Genetic Test
The primary purpose of the VPS33B Gene NGS Genetic Test is to confirm a clinical diagnosis of ARC sy...
TGFBR2 Gene Loeys-Dietz syndrome type 2B NGS Genetic Test
The purpose of this test is to detect mutations in the TGFBR2 gene to confirm a diagnosis of Loeys-D...
SMAD3 Gene Loeys-Dietz syndrome type 1C NGS Genetic Test
The purpose of the SMAD3 Gene Loeys-Dietz Syndrome Type 1C NGS Genetic Test is to identify pathogeni...
ERCC4 Gene XFE progeroid syndrome NGS Genetic Test
The purpose of the ERCC4 Gene XFE Progeroid Syndrome NGS Genetic Test is to identify pathogenic muta...
MAP2K1 Gene Cardiofaciocutaneous syndrome type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the MAP2K1 gene to confirm a diagnosis of Cardiof...
ENPP1 Gene Arterial calcification type 1, generalized, infantile NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ENPP1 gene for the accurate diag...
CCDC28B Gene Bardet-Biedl syndrome, modifier of, CCDC28B related NGS Genetic Test
The purpose of the CCDC28B gene test is to identify genetic variations in the CCDC28B gene that modi...
BBS9 Gene Bardet-Biedl syndrome type 9 NGS Genetic Test
To detect mutations in the BBS9 gene for the diagnosis of Bardet-Biedl Syndrome Type 9, aiding in cl...
PREPL Gene Hypotonia-cystinuria syndrome NGS Genetic Test
To diagnose Hypotonia-Cystinuria Syndrome by analyzing the PREPL gene for pathogenic mutations using...
UBR1 Gene Johanson Blizzard syndrome NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the UBR1 gene to confirm a diagnosis o...
SCNN1B Gene Liddle syndrome NGS Genetic Test
The purpose of the SCNN1B Gene Liddle Syndrome NGS Genetic Test is to identify pathogenic mutations...
OCRL Gene Lowe oculocerebrorenal syndrome NGS Genetic Test
To identify mutations in the OCRL gene for accurate diagnosis of Lowe oculocerebrorenal syndrome, ai...
CEP290 Gene Senior-Loken syndrome type 6 NGS Genetic Test
To identify mutations in the CEP290 gene for diagnosis of Senior-Loken syndrome type 6, guiding clin...
WAC Gene Desanto-Shinawi syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the WAC gene to confirm a diagnosis of Desanto-Sh...
KIF1BP Gene Goldberg-Shprintzen megacolon syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the KIF1BP gene for the diagnosis of Goldberg-S...
BCS1L Gene GRACILE syndrome NGS Genetic Test
To detect mutations in the BCS1L gene for diagnosis of GRACILE syndrome, enabling early intervention...
FBN1 Gene Geleophysic dysplasia type 2 NGS Genetic Test
The purpose of this test is to diagnose Geleophysic dysplasia type 2 by detecting mutations in the F...
SATB2 Gene Glass syndrome NGS Genetic Test
To identify mutations in the SATB2 gene that cause Glass syndrome, enabling accurate diagnosis, gene...
GLI3 Gene Greig cephalopolysyndactyly syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the GLI3 gene to confirm a diagnosis of Greig cep...
PTDSS1 Gene Lenz-Majewski hyperostotic dwarfism NGS Genetic Test
To identify mutations in the PTDSS1 gene for diagnosis of Lenz-Majewski hyperostotic dwarfism, enabl...
BRAF Gene LEOPARD syndrome type 3 NGS Genetic Test
To diagnose LEOPARD syndrome type 3 by identifying mutations in the BRAF gene using Next-Generation...
GLE1 Gene Lethal congenital contracture syndrome type 1 NGS Genetic Test
To detect pathogenic mutations in the GLE1 gene for definitive diagnosis of Lethal Congenital Contra...
PEPD Gene Prolidase deficiency NGS Genetic Test
To diagnose prolidase deficiency by identifying mutations in the PEPD gene using advanced NGS techno...
CREBBP Gene Rubinstein-Taybi syndrome NGS Genetic Test
To identify mutations in the CREBBP gene that cause Rubinstein-Taybi Syndrome, aiding in accurate di...
EP300 Gene Rubinstein-Taybi syndrome NGS Genetic Test
To diagnose Rubinstein-Taybi Syndrome by identifying pathogenic mutations in the EP300 gene using Ne...
NIN Gene Seckel syndrome type 7 NGS Genetic Test
The purpose of the NIN Gene Seckel Syndrome Type 7 NGS Genetic Test is to detect mutations in the NI...
IFT80 Gene Short-rib thoracic dysplasia type 2 with or without polydactyly NGS Genetic Test
To diagnose Short-rib thoracic dysplasia type 2 with or without polydactyly by detecting mutations i...
ERCC4 Gene XFE progeroid syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the ERCC4 gene that cause XFE progeroid syndrom...
AAAS Full Gene Sequence Analysis (Allogrove Syndrome)
To diagnose Allogrove Syndrome by detecting mutations in the AAAS gene through full gene sequence an...
Familial Mediterranean Fever: MEFV Full Gene Analysis
The purpose of the MEFV Full Gene Analysis is to confirm a diagnosis of Familial Mediterranean Fever...
TBX5 Full Length Gene Sequence Analysis (Holt-Oram Syndrome)
The purpose of TBX5 Full Length Gene Sequence Analysis is to confirm the diagnosis of Holt-Oram Synd...
TSC1 & TSC2 Gene Analysis
The purpose of the TSC1 & TSC2 Gene Analysis is to identify mutations in the TSC1 and TSC2 genes, wh...
WS1 Full Gene Sequence Analysis (Wolfram Syndrome, DIDMOAD)
The primary purpose of WS1 Full Gene Sequence Analysis is to confirm or rule out a clinical diagnosi...
AP3B1 Gene Hermansky-Pudlak Syndrome Type 2 NGS Genetic Test
The purpose of this test is to confirm a diagnosis of Hermansky-Pudlak Syndrome Type 2 by detecting...
HPS1 Gene Hermansky-Pudlak Syndrome Type 1 NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the HPS1 gene. It helps confirm...
TTR Gene Amyloidosis NGS Genetic Test
The primary purpose of the TTR Gene Amyloidosis NGS Genetic Test is to identify disease-causing muta...
PEX3 Gene Peroxisome biogenesis disorder type 10A NGS Genetic Test
The primary purpose of this NGS genetic test is to detect mutations in the PEX3 gene that lead to Pe...
EDNRB Gene Waardenburg syndrome/Hirschsprung disease NGS Genetic Test
The purpose of this test is to diagnose Waardenburg syndrome and Hirschsprung disease by identifying...
ALPL Gene Hypophosphatasia, childhood NGS Genetic Test
To diagnose hypophosphatasia by detecting mutations in the ALPL gene using next-generation sequencin...
GNPTAB Gene Mucolipidosis type 2 alpha/beta NGS Genetic Test
To detect pathogenic mutations in the GNPTAB gene for the diagnosis of Mucolipidosis Type 2 Alpha/Be...
DNAAF1 Gene Primary ciliary dyskinesia type 13 NGS Genetic Test
To identify mutations in the DNAAF1 gene associated with primary ciliary dyskinesia type 13, aiding...
CCDC39 Gene Primary ciliary dyskinesia type 14 NGS Genetic Test
To identify pathogenic mutations in the CCDC39 gene for the diagnosis of Primary Ciliary Dyskinesia...
CCDC114 Gene Primary ciliary dyskinesia type 20 NGS Genetic Test
To detect mutations in the CCDC114 gene for the diagnosis of primary ciliary dyskinesia type 20, ena...
RSPH1 Gene Primary ciliary dyskinesia type 24 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the RSPH1 gene to diagnose Primary C...
DYX1C1 Gene Primary ciliary dyskinesia type 25 NGS Genetic Test
To diagnose PCD Type 25 by detecting mutations in the DYX1C1 gene using NGS technology.
CFAP298 Gene Primary ciliary dyskinesia type 26 NGS Genetic Test
To diagnose Primary Ciliary Dyskinesia Type 26 by identifying mutations in the CFAP298 gene through...
DNAH5 Gene Primary ciliary dyskinesia type 3 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the DNAH5 gene to confirm a diagnosi...
DNAH11 Gene Primary ciliary dyskinesia type 7 NGS Genetic Test
To diagnose primary ciliary dyskinesia type 7 caused by DNAH11 gene mutations, confirm clinical susp...
MITF Gene Tietz albinism-deafness syndrome NGS Genetic Test
To diagnose Tietz Albinism-Deafness Syndrome by detecting pathogenic mutations in the MITF gene usin...
WFS1 Gene Wolfram syndrome type 1 NGS Genetic Test
The purpose of the WFS1 Gene Wolfram Syndrome Type 1 NGS Genetic Test is to diagnose Wolfram Syndrom...
CISD2 Gene Wolfram syndrome type 2 NGS Genetic Test
The purpose of the CISD2 Gene Wolfram Syndrome Type 2 NGS Genetic Test is to diagnose Wolfram Syndro...
MASP1 Gene 3MC syndrome type 1 NGS Genetic Test
To detect mutations in the MASP1 gene for diagnosis of 3MC Syndrome Type 1.
RBPJ Gene Adams-Oliver syndrome type 3 NGS Genetic Test
To diagnose Adams-Oliver Syndrome Type 3 by detecting mutations in the RBPJ gene using Next-Generati...
LEMD3 Gene Buschke-Ollendorff syndrome NGS Genetic Test
To identify mutations in the LEMD3 gene for diagnosis of Buschke-Ollendorff Syndrome.
NIPBL Gene Cornelia de Lange syndrome type 1 NGS Genetic Test
To confirm the diagnosis of Cornelia de Lange Syndrome Type 1 by detecting pathogenic mutations in t...
SMC1A Gene Cornelia de Lange syndrome type 2 NGS Genetic Test
To identify mutations in the SMC1A gene for the diagnosis of Cornelia de Lange Syndrome Type 2, aidi...
SMC3 Gene Cornelia de Lange syndrome type 3 NGS Genetic Test
To identify pathogenic mutations in the SMC3 gene for accurate diagnosis of Cornelia de Lange Syndro...
HDAC8 Gene Cornelia de Lange syndrome type 5 NGS Genetic Test
The purpose of this test is to detect mutations in the HDAC8 gene for the diagnosis of Cornelia de L...
NHP2 Gene Dyskeratosis congenita, autosomal recessive type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the NHP2 gene to confirm a diagnosis...
ACD Gene Dyskeratosis congenita, autosomal recessive type 7 NGS Genetic Test
The purpose of this test is to diagnose autosomal recessive type 7 dyskeratosis congenita by identif...
MIR17HG Gene Feingold syndrome type 2 NGS Genetic Test
To detect mutations in the MIR17HG gene for the diagnosis of Feingold Syndrome Type 2, aiding in cli...
ACVR1 Gene Fibrodysplasia ossificans progressiva NGS Genetic Test
To diagnose Fibrodysplasia Ossificans Progressiva by detecting mutations in the ACVR1 gene using NGS...
COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic Test
The purpose of the COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic Test is to detect mutations i...
PEX1 Gene Heimler syndrome type 1 NGS Genetic Test
The purpose of the PEX1 Gene Heimler Syndrome Type 1 NGS Genetic Test is to identify mutations in th...
MBTPS2 Gene Ichthyosis follicularis, atricia, and photophobia syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the MBTPS2 gene to confirm a diagnos...
MMP2 Gene Multicentric osteolysis, nodulosis, and arthropathy NGS Genetic Test
To detect mutations in the MMP2 gene for diagnosis of multicentric osteolysis, nodulosis, and arthro...
INPPL1 Gene Opsismodysplasia NGS Genetic Test
The purpose of this test is to detect mutations in the INPPL1 gene to diagnose opsismodysplasia, a r...
TERT Gene Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 1 NGS Genetic Test
The purpose of this test is to diagnose telomere-related type 1 diseases by detecting mutations in t...
FGFRL1 Gene Radioulnar synostosis, FGFRL1 related NGS Genetic Test
To identify mutations in the FGFRL1 gene causing radioulnar synostosis for accurate diagnosis, manag...
ACP5 Gene Spondyloenchondrodysplasia with immune dysregulation NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ACP5 gene to confirm the diagnos...
SKIV2L Gene Trichohepatoenteric syndrome type 2 NGS Genetic Test
To diagnose Trichohepatoenteric Syndrome Type 2 by detecting mutations in the SKIV2L gene using NGS...
TTC37 Gene Trichohepatoenteric syndrome type 1 NGS Genetic Test
To diagnose Trichohepatoenteric syndrome type 1 by identifying pathogenic mutations in the TTC37 gen...
TMEM173 Gene Vasculopathy, infantile-onset, TMEM173/STING related NGS Genetic Test
To detect pathogenic mutations in the TMEM173 gene for the diagnosis of STING-associated vasculopath...
EIF2AK3 Gene Wolcott-Rallison syndrome NGS Genetic Test
To identify pathogenic mutations in the EIF2AK3 gene for the diagnosis of Wolcott-Rallison Syndrome,...
GLA Gene Fabry disease NGS Genetic Test
The purpose of this test is to identify mutations in the GLA gene to diagnose Fabry disease, confirm...
MTRR Gene Homocystinuria-megaloblastic anemia, cbl E type NGS Genetic Test
The purpose of this test is to detect mutations in the MTRR gene to confirm a diagnosis of homocysti...
LPIN1 Gene Myoglobinuria acute recurrent NGS Genetic Test
The purpose of this test is to diagnose LPIN1 gene mutations causing acute recurrent myoglobinuria,...
KLHL3 Gene Pseudohypoaldosteronism type 2D NGS Genetic Test
To diagnose Pseudohypoaldosteronism type 2D by detecting mutations in the KLHL3 gene using NGS techn...
BBS1 Gene Bardet-Biedl syndrome type 1 NGS Genetic Test
To diagnose Bardet-Biedl Syndrome Type 1 by identifying mutations in the BBS1 gene using next-genera...
BBS10 Gene Bardet-Biedl syndrome type 10 NGS Genetic Test
To diagnose Bardet-Biedl Syndrome Type 10 by detecting pathogenic mutations in the BBS10 gene using...
VIPAS39 Gene Arthrogryposis, renal dysfunction, and cholestasis type 2 NGS Genetic Test
The purpose of this test is to diagnose ARC2 by sequencing the VIPAS39 gene to identify pathogenic m...
BBS12 Gene Bardet-Biedl syndrome type 12 NGS Genetic Test
To detect mutations in the BBS12 gene for diagnosis of Bardet-Biedl Syndrome Type 12, enabling early...
TRIM32 Gene Bardet-Biedl syndrome type 11 NGS Genetic Test
To diagnose Bardet-Biedl Syndrome Type 11 by detecting mutations in the TRIM32 gene using Next-Gener...
CEP290 Gene Bardet-Biedl syndrome type 14 NGS Genetic Test
The purpose of this test is to confirm a diagnosis of Bardet-Biedl syndrome type 14 by identifying m...
WDPCP Gene Bardet-Biedl syndrome type 15 NGS Genetic Test
The purpose of the WDPCP Gene Bardet-Biedl Syndrome Type 15 NGS Genetic Test is to detect mutations...
BBS2 Gene Bardet-Biedl syndrome type 2 NGS Genetic Test
To identify mutations in the BBS2 gene for accurate diagnosis of Bardet-Biedl Syndrome Type 2, enabl...
BBS5 Gene Bardet-Biedl syndrome type 5 NGS Genetic Test
To identify mutations in the BBS5 gene for diagnosis of Bardet-Biedl Syndrome Type 5, confirm clinic...
MKS1 Gene Meckel syndrome type 1 NGS Genetic Test
To confirm diagnosis of Meckel Syndrome Type 1 by detecting pathogenic mutations in the MKS1 gene us...
MKKS Gene McKusick-Kaufman syndrome NGS Genetic Test
The purpose of the MKKS Gene NGS Genetic Test is to diagnose McKusick-Kaufman Syndrome by detecting...
CEP290 Gene Meckel syndrome type 4 NGS Genetic Test
To diagnose Meckel Syndrome Type 4 by identifying pathogenic mutations in the CEP290 gene using NGS...
TCTN2 Gene Meckel syndrome type 8 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the TCTN2 gene to confirm a diagnosis o...
B9D1 Gene Meckel syndrome type 9 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the B9D1 gene for the diagnosis of Mec...
LAS1L Gene Wilson-Turner syndrome NGS Genetic Test
The purpose of the LAS1L Gene Wilson-Turner Syndrome NGS Genetic Test is to diagnose Wilson-Turner s...
EIF2AK3 Gene Wolcott-Rallison syndrome NGS Genetic Test
The purpose of the EIF2AK3 Gene Wolcott-Rallison Syndrome NGS Genetic Test is to confirm a diagnosis...
HOXA13 Gene Guttmacher syndrome NGS Genetic Test
The purpose of the HOXA13 Gene Guttmacher Syndrome NGS Genetic Test is to accurately detect mutation...
GGCX Gene Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency NGS Genetic Test
To diagnose GGCX gene mutations associated with Pseudoxanthoma elasticum-like disorder and multiple...
SMARCAL1 Gene Schimke immunoosseous dysplasia NGS Genetic Test
This test is designed to diagnose Schimke immunoosseous dysplasia by identifying mutations in the SM...
Ciliopathies Panel NGS Genetic Test
The purpose of the Ciliopathies Panel NGS Genetic Test is to provide a definitive diagnosis for susp...
PRKAR1A Gene Acrodysostosis type 1, with or without hormone resistance NGS Genetic Test
The purpose of this test is to detect mutations in the PRKAR1A gene to confirm a diagnosis of acrody...
ZSWIM6 Gene Acromelic frontonasal dysostosis NGS Genetic Test
To confirm the diagnosis of Acromelic frontonasal dysostosis by identifying mutations in the ZSWIM6...
DLL4 Gene Adams-Oliver syndrome type 6 NGS Genetic Test
The purpose of this test is to diagnose Adams-Oliver Syndrome Type 6 by identifying pathogenic mutat...
TP63 Gene ADULT syndrome, split hand-foot malformation NGS Genetic Test
The purpose of this test is to diagnose ADULT syndrome by detecting mutations in the TP63 gene using...
FBN1 Gene Acromicric dysplasia NGS Genetic Test
To identify mutations in the FBN1 gene associated with acromicric dysplasia for accurate diagnosis,...
NOTCH2 Gene Alagille syndrome type 2 NGS Genetic Test
The purpose of this test is to identify mutations in the NOTCH2 gene that cause Alagille Syndrome Ty...
JAG1 Gene Alagille syndrome type 1 NGS Genetic Test
To confirm the diagnosis of Alagille syndrome type 1 by detecting pathogenic mutations in the JAG1 g...
GNAI3 Gene Auriculocondylar syndrome type 1 NGS Genetic Test
The purpose of the GNAI3 Gene Auriculocondylar Syndrome Type 1 NGS Genetic Test is to confirm the di...
FREM1 Gene Bifid nose NGS Genetic Test
To detect mutations in the FREM1 gene that cause bifid nose, enabling accurate diagnosis, treatment...
NOD2 Gene Blau syndrome NGS Genetic Test
To confirm a diagnosis of Blau syndrome by detecting mutations in the NOD2 gene, aiding in clinical...
BMPR1B Gene Brachydactyly type A2 NGS Genetic Test
The purpose of this test is to detect mutations in the BMPR1B gene associated with Brachydactyly typ...
TFAP2A Gene Branchiooculofacial syndrome NGS Genetic Test
To detect mutations in the TFAP2A gene for accurate diagnosis of Branchiooculofacial Syndrome, enabl...
PRG4 Gene Camptodactyly-arthropathy-coxa vara-pericarditis syndrome NGS Genetic Test
To identify mutations in the PRG4 gene for accurate diagnosis of Camptodactyly-arthropathy-coxa vara...
MEGF8 Gene Carpenter syndrome type 2 NGS Genetic Test
To identify mutations in the MEGF8 gene for diagnosis of Carpenter Syndrome Type 2, aiding in clinic...
ABCC9 Gene Cantu syndrome NGS Genetic Test
To identify mutations in the ABCC9 gene for the diagnosis of Cantu syndrome, aiding in clinical mana...
GFRA1 Gene Central hypoventilation syndrome, congenital NGS Genetic Test
To identify mutations in the GFRA1 gene that cause Central Hypoventilation Syndrome, aiding in diagn...
SNAP29 Gene Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the SNAP29 gene that cause CEDNIK syndrome, ena...
TFAP2B Gene Char syndrome NGS Genetic Test
To diagnose Char Syndrome by detecting mutations in the TFAP2B gene using NGS technology, aiding in...
IMPAD1 Gene Chondrodysplasia with joint dislocations, GPAPP type NGS Genetic Test
The purpose of this test is to diagnose Chondrodysplasia with joint dislocations, GPAPP type by iden...
ERCC6 Gene Cockayne syndrome type B NGS Genetic Test
The purpose of the ERCC6 Gene Cockayne Syndrome Type B NGS Genetic Test is to identify mutations in...
LONP1 Gene CODAS syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the LONP1 gene that cause CODAS syndrome, enabl...
CLCF1 Gene Cold-induced sweating syndrome type 2 NGS Genetic Test
The purpose of this test is to detect mutations in the CLCF1 gene to confirm a diagnosis of Cold-ind...
SOST Gene Craniodiaphyseal dysplasia, autosomal dominant NGS Genetic Test
To identify pathogenic mutations in the SOST gene for confirming diagnosis of craniodiaphyseal dyspl...
IFT122 Gene Cranioectodermal dysplasia type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the IFT122 gene that cause Cranioectodermal dys...
WDR35 Gene Cranioectodermal dysplasia type 2 NGS Genetic Test
The purpose of the WDR35 Gene Cranioectodermal dysplasia type 2 NGS Genetic Test is to diagnose CED2...
FRAS1 Gene Fraser syndrome NGS Genetic Test
The purpose of the FRAS1 Gene Fraser Syndrome NGS Genetic Test is to diagnose Fraser syndrome by det...
GRIP1 Gene Fraser syndrome NGS Genetic Test
The purpose of this test is to diagnose Fraser syndrome by identifying pathogenic mutations in the G...
ADNP Gene Helsmoortel-van der Aa syndrome NGS Genetic Test
The purpose of the ADNP Gene Helsmoortel-van der Aa syndrome NGS Genetic Test is to detect pathogeni...
NODAL Gene Heterotaxy, visceral type 5 NGS Genetic Test
To diagnose NODAL gene heterotaxy, visceral type 5 by detecting mutations in the NODAL gene using Ne...
FAT4 Gene Hennekam lymphangiectasia-lymphedema syndrome type 2 NGS Genetic Test
The purpose of this test is to detect mutations in the FAT4 gene to confirm a diagnosis of Hennekam...
ACVR2B Gene Heterotaxy, visceral type 4 NGS Genetic Test
To diagnose Heterotaxy, visceral type 4 by identifying pathogenic mutations in the ACVR2B gene using...
FGFR2 Gene Jackson-Weiss syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the FGFR2 gene that cause Jackson-Weiss syndrom...
KDM6A Gene Kabuki syndrome type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the KDM6A gene that cause Kabuki synd...
COL2A1 Gene Kniest dysplasia NGS Genetic Test
The primary purpose of the COL2A1 Gene Kniest Dysplasia NGS Genetic Test is to detect mutations in t...
FOXC2 Gene Lymphedema-distichiasis syndrome NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the FOXC2 gene that caus...
LMNA Gene Mandibuloacral dysplasia NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of Mandibuloacral Dysplasia by identi...
POLD1 Gene Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Mandibular hypoplasia, deafness, prog...
ORC4 Gene Meier-Gorlin syndrome type 2 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Meier-Gorlin syndrome type 2 by ident...
SMAD4 Gene Myhre syndrome NGS Genetic Test
The primary purpose of this NGS genetic test is to detect pathogenic variants in the SMAD4 gene that...
NBN Gene Nijmegen breakage syndrome NGS Genetic Test
The primary purpose of this NGS genetic test is to identify pathogenic mutations in the NBN gene to...
GJA1 Gene Oculodentodigital dysplasia NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Oculodentodigital dysplasia by identi...
TRPV3 Gene Olmsted syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the TRPV3 gene that are associated wi...
DDX59 Gene Orofaciodigital syndrome type 5 NGS Genetic Test
The purpose of the DDX59 NGS genetic test is to identify pathogenic mutations in the DDX59 gene that...
C2CD3 Gene Orofaciodigital syndrome type 14 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Orofaciodigital syndrome type 14 by i...
TCTN3 Gene Orofaciodigital syndrome type 4 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Orofaciodigital Syndrome Type 4 by id...
FGFR1 Gene Osteoglophonic dysplasia NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Osteoglophonic Dysplasia by identifyi...
EYA1 Gene Otofaciocervical syndrome NGS Genetic Test
The purpose of the EYA1 Gene NGS Genetic Test is to detect mutations in the EYA1 gene that cause Oto...
COL11A2 Gene Otospondylomegaepiphyseal dysplasia NGS Genetic Test
The primary purpose of this NGS genetic test is to confirm a clinical diagnosis of Otospondylomegaep...
CPLANE1 Gene Orofaciodigital syndrome type 6 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Orofaciodigital syndrome type 6 by id...
COL2A1 Gene Otospondylomegaepiphyseal dysplasia NGS Genetic Test
The purpose of the COL2A1 gene NGS genetic test is to identify pathogenic mutations in the COL2A1 ge...
GLI3 Gene Pallister-Hall syndrome NGS Genetic Test
The purpose of the GLI3 Gene Pallister-Hall Syndrome NGS Genetic Test is to confirm or rule out a cl...
RIPK4 Gene Popliteal pterygium syndrome, lethal type NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Popliteal pterygium syndrome, lethal...
PIK3R1 Gene SHORT syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the PIK3R1 gene that cause SHORT syndrome. Gene...
DHCR7 Gene Smith-Lemli-Opitz syndrome NGS Genetic Test
The purpose of this test is to confirm or rule out Smith-Lemli-Opitz Syndrome by detecting mutations...
WNT10B Gene Split-hand/foot malformation type 6 NGS Genetic Test
The primary purpose of this test is to confirm a clinical diagnosis of Split-hand/foot malformation...
WNT3 Gene Tetraamelia, autosomal recessive NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the WNT3 gene that cause...
CCDC8 Gene Three M syndrome type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the CCDC8 gene that are associated with Three M s...
SALL1 Gene Townes-Brocks syndrome NGS Genetic Test
The primary purpose of the SALL1 Gene NGS Genetic Test is to confirm a clinical diagnosis of Townes-...
TCOF1 Gene Treacher Collins syndrome type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Treacher Collins Syndrome Type 1 by i...
POLR1C Gene Treacher Collins syndrome type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the POLR1C gene that cause Treacher Collins Syndr...
TBX3 Gene Ulnar-Mammary syndrome NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Ulnar-Mammary Syndrome by identifying...
IRF6 Gene van der Woude syndrome type 1 NGS Genetic Test
The primary purpose of this test is to confirm a clinical diagnosis of Van der Woude Syndrome Type 1...
SCARF2 Gene Van den Ende-Gupta syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the SCARF2 gene that are associated...
GRHL3 Gene van der Woude syndrome type 2 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Van der Woude Syndrome Type 2 by iden...
FAT4 Gene Van Maldergem syndrome type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the FAT4 gene that cause Van Malderg...
DDX11 Gene Warsaw breakage syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the DDX11 gene that cause Warsaw Bre...
EZH2 Gene Weaver syndrome NGS Genetic Test
The purpose of the EZH2 Gene Weaver Syndrome NGS Genetic Test is to confirm a clinical diagnosis of...
LTBP2 Gene Weill-Marchesani syndrome type 3 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Weill-Marchesani Syndrome Type 3 by i...
FBN1 Gene Weill-Marchesani syndrome, dominant type 2 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Weill-Marchesani syndrome, dominant t...
WRN Gene Werner syndrome NGS Genetic Test
The purpose of this test is to confirm or rule out Werner syndrome by identifying mutations in the W...
MSX1 Gene Witkop syndrome NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of Witkop syndrome by detecting mutat...