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Molecular Diagnostics Laboratory (Seoul National University Hospital)

General information

Molecular Diagnostics Laboratory
Seoul National University Hospital
101 Daehak-ro, Jongno-gu
Seoul
Seoul-t'ukpyolsi
South Korea - 110-744
http://www.snuh-dnalab.or.kr/
Organization ID: 320228

Personnel

  • Moon-Woo Seong
  • Moon-Woo Seong, Administrator
    Phone: +82-2-2072-4180
    Email: [email protected]

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 57

Gene

GeneSubmissionsLast Updated
ABCB114Sep 24, 2022
AHI12Sep 19, 2014
CEP2904Sep 19, 2014
COPB2-DT1Sep 19, 2014
CRB12Sep 19, 2014
FANCA1Sep 19, 2014
FSCN21Sep 19, 2014
GUCA1B1Sep 19, 2014
IQCB11Sep 19, 2014
JAG18Sep 24, 2022
LOC1221522961Sep 19, 2014
LRP51Sep 19, 2014
NPHP11Sep 19, 2014
NPHP31Sep 19, 2014
NPHP3-ACAD111Sep 19, 2014
NPHP42Sep 19, 2014
PHKA26Nov 14, 2019
PHKA2-AS11Nov 14, 2019
PHKG22Nov 14, 2019
PYGL6Nov 21, 2022
RBP11Sep 19, 2014
RIMS11Sep 19, 2014
RPGRIP14Sep 19, 2014
SLC25A131Sep 24, 2022
SMARCA41Jul 31, 2022
USH2A3Sep 19, 2014
VPS33B2Sep 24, 2022
WFS11Jan 8, 2023

Condition

NameSubmissionsLast Updated
Alagille syndrome due to a JAG1 point mutation8Sep 24, 2022
Arthrogryposis, renal dysfunction, and cholestasis 12Sep 24, 2022
Autosomal dominant nonsyndromic hearing loss 61Jan 8, 2023
Fanconi anemia complementation group A1Sep 19, 2014
Glycogen storage disease IXa16Nov 14, 2019
Glycogen storage disease IXc2Nov 14, 2019
Glycogen storage disease, type VI6Nov 21, 2022
Intellectual disability, autosomal dominant 161Jul 31, 2022
Joubert syndrome 32Sep 19, 2014
Leber congenital amaurosis12Sep 19, 2014
Leber congenital amaurosis 104Sep 19, 2014
Leber congenital amaurosis 64Sep 19, 2014
Leber congenital amaurosis 82Sep 19, 2014
Neonatal intrahepatic cholestasis due to citrin deficiency1Sep 24, 2022
Progressive familial intrahepatic cholestasis type 24Sep 24, 2022
Senior-Loken syndrome 51Sep 19, 2014

Testing in GTR

Disease nameNumber of tests
ABO blood group system1 test
Alagille syndrome due to a JAG1 point mutation1 test
Alzheimer disease 31 test
Amyloidosis, hereditary systemic 11 test
Amyotrophic lateral sclerosis1 test
Amyotrophic lateral sclerosis type 11 test
Aniridia 11 test
Arginase deficiency1 test
Atrophia bulborum hereditaria1 test
Autosomal dominant nonsyndromic hearing loss 3A1 test
Autosomal dominant optic atrophy classic form1 test
Autosomal recessive juvenile Parkinson disease 21 test
Autosomal recessive limb-girdle muscular dystrophy2 tests
Avellino corneal dystrophy1 test
Azorean disease1 test
Breast-ovarian cancer, familial, susceptibility to, 11 test
CHARGE syndrome1 test
CYP2C19-related poor drug metabolism1 test
Carney-Stratakis syndrome1 test
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
Charcot-Marie-Tooth disease X-linked dominant 11 test
Charcot-Marie-Tooth disease type 1B1 test
Charcot-Marie-Tooth disease type 1E1 test
Charcot-Marie-Tooth disease type 2A21 test
Charcot-Marie-Tooth disease, type IA1 test
Childhood-onset cerebral X-linked adrenoleukodystrophy1 test
Citrin deficiency1 test
Citrullinemia type I1 test
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
Congenital central hypoventilation1 test
Craniosynostosis syndrome1 test
Cyclical neutropenia1 test
Cystic fibrosis1 test
Deficiency of galactokinase1 test
Disorder due cytochrome p450 CYP2C9 variant1 test
Duchenne muscular dystrophy1 test
Dystonia 51 test
Ehlers-Danlos syndrome, type 41 test
Familial adenomatous polyposis 11 test
Familial hemiplegic migraine1 test
Familial hemophagocytic lymphohistiocytosis2 tests
Familial hyperinsulinism1 test
Familial hypokalemia-hypomagnesemia1 test
Fanconi anemia complementation group A1 test
Fragile X syndrome1 test
Frontotemporal dementia1 test
GSTM1-related lung cancer1 test
Galactosemia1 test
Galactosylceramide beta-galactosidase deficiency1 test
Gaucher disease1 test
Generalized juvenile polyposis/juvenile polyposis coli1 test
Gilbert syndrome, susceptibility to1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
Glycogen storage disease type III1 test
Glycogen storage disease, type II1 test
Glycogen storage disease, type IV1 test
Glycogen storage disease, type V1 test
Hemochromatosis type 11 test
Hereditary antithrombin deficiency1 test
Hereditary breast ovarian cancer syndrome2 tests
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary pheochromocytoma-paraganglioma1 test
Hereditary spastic paraplegia 3A1 test
Hereditary spastic paraplegia 41 test
Hereditary von Willebrand disease1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
Huntington disease1 test
Hypochondroplasia1 test
Hypokalemic periodic paralysis2 tests
Incontinentia pigmenti syndrome1 test
Infantile cortical hyperostosis1 test
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
Juvenile retinoschisis1 test
KCNQ1-related acquired long QT syndrome1 test
Kennedy disease1 test
Leber congenital amaurosis1 test
Leber optic atrophy1 test
Li-Fraumeni syndrome1 test
Loeys-Dietz syndrome2 tests
Long QT syndrome 21 test
Long QT syndrome 31 test
Lynch syndrome2 tests
MELAS syndrome1 test
MERRF syndrome1 test
Marfan syndrome1 test
Maturity-onset diabetes of the young type 31 test
Menkes kinky-hair syndrome1 test
Metachromatic leukodystrophy1 test
Metaphyseal chondrodysplasia, Schmid type1 test
Mitochondrial DNA-Associated Leigh Syndrome and NARP1 test
Mucopolysaccharidosis, MPS-II2 tests
Muenke syndrome1 test
Multiple Epiphyseal Dysplasia, Dominant2 tests
Multiple congenital exostosis2 tests
Multiple endocrine neoplasia, type 11 test
Multiple endocrine neoplasia, type 21 test
Myoclonic dystonia 111 test
Myopathy1 test
Neurofibromatosis, type 11 test
Neurofibromatosis, type 21 test
Noonan syndrome1 test
Ornithine carbamoyltransferase deficiency1 test
Osteogenesis imperfecta1 test
Pelizaeus-Merzbacher disease1 test
Pendred syndrome1 test
Peroxisome biogenesis disorder 1A (Zellweger)1 test
Peutz-Jeghers syndrome1 test
Pfeiffer syndrome1 test
Pigmentary pallidal degeneration1 test
Polycystic kidney disease 21 test
Prader-Willi syndrome1 test
Progressive familial intrahepatic cholestasis type 11 test
Progressive familial intrahepatic cholestasis type 31 test
Progressive myositis ossificans2 tests
Pseudohypoparathyroidism1 test
Retinoblastoma1 test
Smith-Lemli-Opitz syndrome1 test
Spinal muscular atrophy2 tests
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 171 test
Spinocerebellar ataxia type 21 test
Spinocerebellar ataxia type 61 test
Thiopurine S-methyltransferase deficiency2 tests
Thrombophilia due to protein C deficiency, autosomal dominant1 test
Thrombophilia due to protein S deficiency, autosomal dominant1 test
Thrombophilia due to thrombin defect1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Type II Collagenopathies1 test
Vitamin K-dependent clotting factors, combined deficiency of, type 11 test
Von Hippel-Lindau syndrome2 tests
Wilson disease1 test
Wiskott-Aldrich syndrome1 test
X-linked agammaglobulinemia1 test
X-linked severe combined immunodeficiency1 test
beta Thalassemia1 test