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Lifecell International Pvt. Ltd

General information

Lifecell International Pvt. Ltd

No 26, Vandalur-Kelambakkam Main Road,
chennai
Chennai
Tamil Nadu
India - 600127
https://www.lifecell.in
Organization ID: 507720

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 356

Gene

GeneSubmissionsLast Updated
ABCA121May 24, 2023
ABCB42May 9, 2023
ABCD13Jun 1, 2023
ABHD14A-ACY11May 9, 2023
ACAT11May 4, 2023
ACOX11Apr 4, 2023
ACY11May 9, 2023
ADGRG11Apr 18, 2023
AHI11May 17, 2023
ALDH5A11Mar 21, 2023
ALDH7A13Apr 12, 2023
ALPK31Apr 6, 2023
AMER11Apr 6, 2023
ANO51Mar 30, 2023
APTX2May 9, 2023
ARG12Apr 11, 2023
ARSA1May 9, 2023
ASL1Apr 6, 2023
ASPA1May 5, 2023
ATG71May 11, 2023
ATM1May 9, 2023
ATP7B1May 11, 2023
ATRIP1May 15, 2023
ATRIP-TREX11May 15, 2023
AVPR21Mar 31, 2023
BBS11Apr 14, 2023
BCKDHA1May 24, 2023
BCKDHB1Mar 20, 2023
BRCA21Apr 12, 2023
BTD1Jun 1, 2023
C11orf651May 9, 2023
C17orf1071Mar 31, 2023
CA5A2Jun 1, 2023
CACNA1A1May 9, 2023
CANT12Apr 8, 2024
CAPN11May 5, 2023
CAPN33May 4, 2023
CAST1May 11, 2023
CCDST1Mar 21, 2023
CCNO1May 24, 2023
CD40LG2May 18, 2023
CDKL51Mar 23, 2023
CEP85L1Apr 3, 2023
CFTR5May 18, 2023
CFTR-AS12May 18, 2023
CHD22Mar 30, 2023
CHD75May 15, 2023
CHRNE1Mar 31, 2023
CLCN11May 12, 2023
CLCN51Apr 11, 2023
CLCN71Mar 31, 2023
CLMP1May 4, 2023
CLN61May 8, 2023
COL6A31Mar 21, 2023
CPLANE11Apr 6, 2023
CREBBP1Mar 31, 2023
CYP17A11May 3, 2023
CYP21A29Apr 3, 2023
DCLRE1C1Jun 7, 2023
DCX1May 11, 2023
DDX3X1May 8, 2023
DEGS12May 22, 2023
DHCR72Jun 22, 2023
DHTKD11May 11, 2023
DMD2Jun 7, 2023
DYRK1A2May 8, 2023
DYSF2May 5, 2023
EFNB11May 4, 2023
EHMT11Apr 5, 2023
ELANE1May 17, 2023
EMC11May 4, 2023
EPB411Apr 3, 2023
ERCC61May 8, 2023
EVC21May 11, 2023
EXOSC31May 11, 2023
EXT11Mar 31, 2023
F82May 22, 2023
FAH2Mar 21, 2023
FANCA1Mar 31, 2023
FANCG1May 1, 2023
FBN11May 12, 2023
FBP12May 9, 2023
FGF231May 22, 2023
FGFR11Apr 12, 2023
FGG1Jun 5, 2023
FLG1Mar 21, 2023
FOXG13May 3, 2023
G6PC11May 12, 2023
G6PD11Dec 30, 2021
GALC1May 3, 2023
GALNS1Apr 12, 2023
GALT4Mar 4, 2021
GBA11May 5, 2023
GCDH4May 9, 2023
GCH11May 22, 2023
GFAP2May 4, 2023
GFI1B1Mar 23, 2023
GJB24Jun 9, 2023
GJC21May 10, 2023
GNE1May 18, 2023
GNPTAB1May 24, 2023
GPX41Mar 20, 2023
GSN1Mar 30, 2023
HADH1Apr 3, 2023
HBA11May 17, 2023
HBB6May 17, 2023
HEXB1May 3, 2023
HGD1Jun 5, 2023
HGSNAT2May 22, 2023
HPS41May 24, 2023
HRAS1May 17, 2023
IDS1Dec 2, 2021
IFIH11May 24, 2023
IGHMBP21May 17, 2023
IL17RC1May 9, 2023
IL2RG1May 18, 2023
ITGB61May 11, 2023
JAK31Jun 1, 2023
KCNH21May 22, 2023
KCNQ22May 24, 2023
KCTD71May 17, 2023
KIF1A1May 8, 2023
KIF5C1May 15, 2023
KMT2D2Apr 6, 2023
KRT101May 11, 2023
KRT10-AS11May 11, 2023
LAMA21Apr 12, 2023
LAMA51Apr 18, 2023
LAMB31May 24, 2023
LIG11Jun 7, 2023
LIPA1May 18, 2023
LOC1019297101May 11, 2023
LOC1027237161Apr 12, 2023
LOC10272405819May 5, 2023
LOC1060501021Dec 2, 2021
LOC1060990626May 17, 2023
LOC1066279811May 5, 2023
LOC1067808009Apr 3, 2023
LOC1068046131May 17, 2023
LOC1071335106May 17, 2023
LOC1082811771May 11, 2023
LOC1106314171Mar 4, 2021
LOC1116744721May 9, 2023
LOC1268065831May 8, 2023
LOC1268596901May 12, 2023
LOC1268604031Mar 28, 2023
LOC1268612451May 17, 2023
LOC1268618781Mar 30, 2023
LOC1300077001May 11, 2023
LOC1300597621Apr 12, 2023
LRRC561May 17, 2023
LTBP41Apr 11, 2023
LYRM71May 4, 2023
MAPRE21Apr 11, 2023
MCCC11May 11, 2023
MEA11May 11, 2023
MECP24May 10, 2023
MED171Jun 1, 2023
MED231Apr 11, 2023
MICU11Apr 6, 2023
MLC12May 22, 2023
MMAB1May 11, 2023
MMACHC1May 5, 2023
MMP201Apr 12, 2023
MMP20-AS11Apr 12, 2023
MRE111Apr 12, 2023
MVP-DT1Mar 23, 2023
MYBPC31May 5, 2023
MYO15A1Jun 9, 2023
MYT1L1May 5, 2023
NDUFB31May 18, 2023
NDUFS41May 17, 2023
NEB3May 24, 2023
NIPBL1Apr 18, 2023
NOD21May 17, 2023
NPHS21Jun 5, 2023
NRAS1Apr 18, 2023
OCLN1Mar 28, 2023
ODAD11May 3, 2023
OPA11May 9, 2023
PACS21May 1, 2023
PANK21May 24, 2023
PAX21Mar 23, 2023
PCCB1May 9, 2023
PCSK11May 11, 2023
PDHX1May 12, 2023
PEX261May 18, 2023
PHEX1Apr 3, 2023
PKD11Jun 5, 2023
PKD21May 22, 2023
PKHD16Jun 1, 2023
PKP21Mar 20, 2023
PLA2G61May 1, 2023
PLD11Mar 22, 2023
PLN1Apr 3, 2023
PLVAP1May 11, 2023
PPP2R5D1May 11, 2023
PPT11May 4, 2023
PQBP11Mar 22, 2023
PRICKLE11May 11, 2023
PRRT21Mar 23, 2023
PRSS121May 18, 2023
PTCHD11May 12, 2023
PTCHD1-AS1Apr 3, 2023
PTPN113May 17, 2023
PURA1May 3, 2023
PUS71May 9, 2023
PYGM1May 3, 2023
QDPR1May 17, 2023
RAD51C1Mar 23, 2023
RMND11May 12, 2023
RNASEH2C1Apr 17, 2023
RYR12Jun 5, 2023
SACS1May 12, 2023
SASS61May 24, 2023
SBDS1Apr 6, 2023
SCN1A46May 5, 2023
SCN2A1May 18, 2023
SETD51Apr 17, 2023
SETX1Apr 11, 2023
SGSH1Jun 1, 2023
SLC22A51May 22, 2023
SLC26A31Apr 18, 2023
SLC26A41Mar 28, 2023
SLC2A21Jun 5, 2023
SLC3A11May 17, 2023
SLC6A51Apr 12, 2023
SLURP11Apr 3, 2023
SON1Apr 18, 2023
SOX21May 11, 2023
SOX2-OT1May 11, 2023
SOX52May 5, 2023
SPATA221May 5, 2023
SPECC1L1May 11, 2023
SPECC1L-ADORA2A1May 11, 2023
SPG112May 22, 2023
SPG71May 4, 2023
SPTAN11May 12, 2023
SRD5A31May 18, 2023
SURF11Mar 31, 2023
SYNE21May 24, 2023
TGM11May 24, 2023
THAP11Apr 5, 2023
TINF21Mar 21, 2023
TMEM2311Apr 17, 2023
TNFRSF11A1May 3, 2023
TNXB3Apr 6, 2023
TP631Apr 5, 2023
TPM11May 18, 2023
TRAPPC2L1Apr 12, 2023
TREX11May 15, 2023
TRMT11May 22, 2023
TSFM1Jun 1, 2023
TTC51Mar 30, 2023
TTN1May 11, 2023
TTN-AS11May 11, 2023
TUBA1A1Apr 12, 2023
TUBB4A1Mar 20, 2023
TUBGCP61Jun 5, 2023
UBAP11May 24, 2023
UBR11May 17, 2023
USH2A1Apr 6, 2023
WAS2Apr 6, 2023
WDR451Apr 11, 2023
WDR721Jun 7, 2023
ZC4H21May 22, 2023
ZMPSTE241Mar 28, 2023

Condition

NameSubmissionsLast Updated
3-methylcrotonyl-CoA carboxylase 1 deficiency1May 11, 2023
Acroerythrokeratoderma1Apr 3, 2023
Acyl-CoA oxidase deficiency1Apr 4, 2023
Adrenoleukodystrophy3Jun 1, 2023
Aicardi-Goutieres syndrome 11May 15, 2023
Aicardi-Goutieres syndrome 31Apr 17, 2023
Aicardi-Goutieres syndrome 71May 24, 2023
Alexander disease2May 4, 2023
Alkaptonuria1Jun 5, 2023
Amelogenesis imperfecta hypomaturation type 2A21Apr 12, 2023
Amelogenesis imperfecta hypomaturation type 2A31Jun 7, 2023
Amelogenesis imperfecta type 1H1May 11, 2023
Aminoacylase 1 deficiency1May 9, 2023
Amyotrophic lateral sclerosis type 41Apr 11, 2023
Anemia, nonspherocytic hemolytic, due to G6PD deficiency11Dec 30, 2021
Anophthalmia/microphthalmia-esophageal atresia syndrome1May 11, 2023
Arginase deficiency2Apr 11, 2023
Argininosuccinate lyase deficiency1Apr 6, 2023
Arrhythmogenic right ventricular dysplasia 91Mar 20, 2023
Arthrogryposis multiplex congenita 62May 15, 2023
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia2May 9, 2023
Ataxia-telangiectasia syndrome1May 9, 2023
Ataxia-telangiectasia-like disorder 11Apr 12, 2023
Autism, susceptibility to, X-linked 31Mar 28, 2023
Autism, susceptibility to, X-linked 41May 12, 2023
Autoimmune lymphoproliferative syndrome type 41Apr 18, 2023
Autosomal dominant hypophosphatemic rickets1May 22, 2023
Autosomal dominant nonsyndromic hearing loss 3A1May 24, 2023
Autosomal recessive Parkinson disease 141May 1, 2023
Autosomal recessive congenital ichthyosis 11May 24, 2023
Autosomal recessive congenital ichthyosis 4B1May 24, 2023
Autosomal recessive distal spinal muscular atrophy 11May 17, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2A2May 4, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2B2May 5, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2L1Mar 30, 2023
Autosomal recessive nonsyndromic hearing loss 1A3Jun 9, 2023
Autosomal recessive nonsyndromic hearing loss 31Jun 9, 2023
Autosomal recessive osteopetrosis 41Mar 31, 2023
Autosomal recessive osteopetrosis 71May 3, 2023
Autosomal recessive spastic paraplegia type 761May 5, 2023
Bardet-Biedl syndrome 11Apr 14, 2023
Beta-thalassemia HBB/LCRB5May 17, 2023
Bilateral frontoparietal polymicrogyria1Apr 18, 2023
Biotinidase deficiency1Jun 1, 2023
Blau syndrome1May 17, 2023
Breast-ovarian cancer, familial, susceptibility to, 21Apr 12, 2023
Breast-ovarian cancer, familial, susceptibility to, 31Mar 23, 2023
CHARGE syndrome5May 15, 2023
Candidiasis, familial, 91May 9, 2023
Cardiac valvular defect, developmental1Mar 22, 2023
Cardiomyopathy, familial hypertrophic 271Apr 6, 2023
Central core myopathy1Jun 5, 2023
Cerebellar atrophy, visual impairment, and psychomotor retardation;1May 4, 2023
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)1May 8, 2023
Charcot-Marie-Tooth disease axonal type 2Q1May 11, 2023
Charlevoix-Saguenay spastic ataxia1May 12, 2023
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency9Apr 3, 2023
Cobalamin C disease1May 5, 2023
Cockayne syndrome type 21May 8, 2023
Combined oxidative phosphorylation defect type 111May 12, 2023
Complex cortical dysplasia with other brain malformations 21May 15, 2023
Congenital bilateral aplasia of vas deferens from CFTR mutation1May 18, 2023
Congenital multicore myopathy with external ophthalmoplegia1Apr 4, 2023
Congenital myasthenic syndrome 4A1Mar 31, 2023
Congenital myotonia, autosomal recessive form1May 12, 2023
Congenital secretory diarrhea, chloride type1Apr 18, 2023
Congenital short bowel syndrome, autosomal recessive1May 4, 2023
Cornelia de Lange syndrome 11Apr 18, 2023
Costello syndrome1May 17, 2023
Craniofrontonasal syndrome1May 4, 2023
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies1Apr 11, 2023
Cystic fibrosis3May 9, 2023
Cystinuria1May 17, 2023
DYRK1A-related intellectual disability syndrome2May 8, 2023
Deficiency of 3-hydroxyacyl-CoA dehydrogenase1Apr 3, 2023
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase4Mar 4, 2021
Deficiency of acetyl-CoA acetyltransferase1May 4, 2023
Deficiency of steroid 17-alpha-monooxygenase1May 3, 2023
Dent disease type 11Apr 11, 2023
Desbuquois dysplasia 12Apr 8, 2024
Developmental and epileptic encephalopathy 6B8Apr 3, 2023
Developmental and epileptic encephalopathy 942Mar 30, 2023
Developmental and epileptic encephalopathy, 111May 18, 2023
Developmental and epileptic encephalopathy, 21Mar 23, 2023
Developmental and epileptic encephalopathy, 51May 12, 2023
Developmental and epileptic encephalopathy, 661May 1, 2023
Developmental and epileptic encephalopathy, 72May 24, 2023
Diabetes insipidus, nephrogenic, X-linked1Mar 31, 2023
Diarrhea 10, protein-losing enteropathy type1May 11, 2023
Dihydropteridine reductase deficiency1May 17, 2023
Dilated cardiomyopathy 1G1May 11, 2023
Dilated cardiomyopathy 1P1Apr 3, 2023
Duchenne muscular dystrophy2Jun 7, 2023
Dyskeratosis congenita, autosomal dominant 31Mar 21, 2023
Dystonia 51May 22, 2023
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31Apr 5, 2023
Ehlers-Danlos syndrome due to tenascin-X deficiency1Apr 6, 2023
Elliptocytosis 11Apr 3, 2023
Ellis-van Creveld syndrome1May 11, 2023
Emery-Dreifuss muscular dystrophy 5, autosomal dominant1May 24, 2023
Epidermolytic ichthyosis1May 11, 2023
Epilepsy, progressive myoclonic, 1B1May 11, 2023
Episodic ataxia type 21May 9, 2023
Erythrocytosis, familial, 71May 17, 2023
Exostoses, multiple, type 11Mar 31, 2023
Familial X-linked hypophosphatemic vitamin D refractory rickets1Apr 3, 2023
Familial dysfibrinogenemia1Jun 5, 2023
Fanconi anemia complementation group A1Mar 31, 2023
Fanconi anemia complementation group G1May 1, 2023
Fanconi-Bickel syndrome1Jun 5, 2023
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 31Jun 1, 2023
Finnish type amyloidosis1Mar 30, 2023
Fructose-biphosphatase deficiency2May 9, 2023
GNE myopathy1May 18, 2023
Galactosylceramide beta-galactosidase deficiency1May 3, 2023
Gaucher disease perinatal lethal1May 5, 2023
Generalized epilepsy with febrile seizures plus, type 215Mar 30, 2023
Glutaric aciduria, type 14May 9, 2023
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1May 12, 2023
Glycogen storage disease, type V1May 3, 2023
Hb SS disease1Mar 28, 2023
Hereditary factor VIII deficiency disease2May 22, 2023
Hereditary pancreatitis1Apr 18, 2023
Hereditary spastic paraplegia 112May 22, 2023
Hereditary spastic paraplegia 441May 10, 2023
Hereditary spastic paraplegia 71May 4, 2023
Hermansky-Pudlak syndrome 41May 24, 2023
Hogue-Janssens syndrome 11May 11, 2023
Hyper-IgM syndrome type 12May 18, 2023
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency2Jun 1, 2023
Hyperekplexia 31Apr 12, 2023
Hypertrophic cardiomyopathy 31May 18, 2023
Hypertrophic cardiomyopathy 41May 5, 2023
Hypogonadotropic hypogonadism 2 with or without anosmia1Apr 12, 2023
Hypomyelinating leukodystrophy 61Mar 20, 2023
Ichthyosis vulgaris1Mar 21, 2023
Immunodeficiency 961Jun 7, 2023
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1Jun 1, 2023
Infantile convulsions and choreoathetosis1Mar 23, 2023
Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature1May 9, 2023
Intellectual developmental disorder, autosomal recessive 681May 22, 2023
Intellectual disability, X-linked 1021May 8, 2023
Intellectual disability, autosomal dominant 391May 5, 2023
Intellectual disability, autosomal dominant 91May 8, 2023
Intellectual disability, autosomal recessive 11May 18, 2023
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Apr 17, 2023
Johanson-Blizzard syndrome1May 17, 2023
Joubert syndrome 171Apr 6, 2023
Joubert syndrome 201Apr 17, 2023
Joubert syndrome 31May 17, 2023
Junctional epidermolysis bullosa gravis of Herlitz1May 24, 2023
Kabuki syndrome 12Apr 6, 2023
Kleefstra syndrome 11Apr 5, 2023
Lamb-Shaffer syndrome2May 5, 2023
Lethal tight skin contracture syndrome1Mar 28, 2023
Leukodystrophy, hypomyelinating, 182May 22, 2023
Lissencephaly due to TUBA1A mutation1Apr 12, 2023
Lissencephaly type 1 due to doublecortin gene mutation1May 11, 2023
Long QT syndrome 21May 22, 2023
Lysosomal acid lipase deficiency1May 18, 2023
Maple syrup urine disease2May 24, 2023
Marfan syndrome1May 12, 2023
Megalencephalic leukoencephalopathy with subcortical cysts 12May 22, 2023
Merosin deficient congenital muscular dystrophy1Apr 12, 2023
Metachromatic leukodystrophy1May 9, 2023
Methylmalonic aciduria, cblB type1May 11, 2023
Microcephaly 14, primary, autosomal recessive1May 24, 2023
Microcephaly and chorioretinopathy 11Jun 5, 2023
Migraine, familial hemiplegic, 31Feb 18, 2023
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1May 9, 2023
Mitochondrial complex 1 deficiency, nuclear type 251May 18, 2023
Mitochondrial complex I deficiency, nuclear type 11May 17, 2023
Mitochondrial complex III deficiency nuclear type 81May 4, 2023
Mitochondrial complex IV deficiency, nuclear type 11Mar 31, 2023
Mucopolysaccharidosis, MPS-II1Dec 2, 2021
Mucopolysaccharidosis, MPS-III-A1Jun 1, 2023
Mucopolysaccharidosis, MPS-III-C2May 22, 2023
Mucopolysaccharidosis, MPS-IV-A1Apr 12, 2023
Muscular dystrophy, limb-girdle, autosomal dominant 41Apr 18, 2023
Nemaline myopathy 21May 24, 2023
Nephrotic syndrome, IIa 261Apr 18, 2023
Nephrotic syndrome, type 21Jun 5, 2023
Neurodegeneration with brain iron accumulation 51Apr 11, 2023
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism1Mar 30, 2023
Neuronal ceroid lipofuscinosis 11May 4, 2023
Neutropenia, severe congenital, 1, autosomal dominant1May 17, 2023
Noonan syndrome 13May 17, 2023
Obesity due to prohormone convertase I deficiency1May 11, 2023
Osteopathia striata with cranial sclerosis1Apr 6, 2023
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1May 3, 2023
Pendred syndrome1Mar 28, 2023
Peroxisome biogenesis disorder 7A (Zellweger)1May 18, 2023
Pigmentary pallidal degeneration1May 24, 2023
Platelet-type bleeding disorder 171Mar 23, 2023
Polycystic kidney disease 21May 22, 2023
Polycystic kidney disease 46Jun 1, 2023
Polycystic kidney disease, adult type1Jun 5, 2023
Pontocerebellar hypoplasia type 1B1May 11, 2023
Primary ciliary dyskinesia 201May 3, 2023
Primary ciliary dyskinesia 291May 24, 2023
Progressive familial intrahepatic cholestasis type 32May 9, 2023
Progressive myoclonic epilepsy type 31May 17, 2023
Propionic acidemia1May 9, 2023
Proximal myopathy with extrapyramidal signs1Apr 6, 2023
Pseudo-Hurler polydystrophy1May 24, 2023
Pseudo-TORCH syndrome 11Mar 28, 2023
Pyridoxine-dependent epilepsy3Apr 12, 2023
Pyruvate dehydrogenase E3-binding protein deficiency1May 12, 2023
Renal carnitine transport defect1May 22, 2023
Renal coloboma syndrome1Mar 23, 2023
Renpenning syndrome1Mar 22, 2023
Rett syndrome3May 10, 2023
Rett syndrome, congenital variant3May 3, 2023
Rubinstein-Taybi syndrome due to CREBBP mutations1Mar 31, 2023
SRD5A3-congenital disorder of glycosylation1May 18, 2023
Sandhoff disease1May 3, 2023
Severe combined immunodeficiency due to DCLRE1C deficiency1Jun 7, 2023
Severe myoclonic epilepsy in infancy29May 5, 2023
Shwachman-Diamond syndrome 11Apr 6, 2023
Skin creases, congenital symmetric circumferential, 21Apr 11, 2023
Smith-Lemli-Opitz syndrome2Jun 22, 2023
Spastic paraplegia 80, autosomal dominant1May 24, 2023
Spinocerebellar ataxia, autosomal recessive 311May 11, 2023
Spondylometaphyseal dysplasia, Sedaghatian type1Mar 20, 2023
Spongy degeneration of central nervous system1May 5, 2023
Succinate-semialdehyde dehydrogenase deficiency1Mar 21, 2023
T-B+ severe combined immunodeficiency due to JAK3 deficiency1Jun 1, 2023
Teebi hypertelorism syndrome 11May 11, 2023
Torsion dystonia 61Apr 5, 2023
Tyrosinemia type I2Mar 21, 2023
Ullrich congenital muscular dystrophy 1A1Mar 21, 2023
Usher syndrome type 2A1Apr 6, 2023
Wieacker-Wolff syndrome, female-restricted1May 22, 2023
Wilson disease1May 11, 2023
X-linked severe combined immunodeficiency1May 18, 2023
X-linked severe congenital neutropenia2Apr 6, 2023
ZTTK syndrome1Apr 18, 2023

Testing in GTR

Disease nameNumber of tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form1 test
Congenital adrenal hyperplasia1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Galactosemia1 test
Non-classic congenital adrenal hyperplasia1 test