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: mwseong@snu.ac.kr

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria not provided

    Summary of submissions to ClinVar

    Total submissions: 34

    Gene

    GeneSubmissionsLast Updated
    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
    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
    RBP11Sep 19, 2014
    RIMS11Sep 19, 2014
    RPGRIP14Sep 19, 2014
    USH2A3Sep 19, 2014

    Testing in GTR

    Disease nameNumber of tests
    ABO blood group system1 test
    Alagille syndrome 11 test
    Alzheimer disease, type 31 test
    Amyloidogenic transthyretin amyloidosis1 test
    Amyotrophic lateral sclerosis1 test
    Amyotrophic lateral sclerosis type 11 test
    Aniridia 11 test
    Antithrombin III deficiency1 test
    Arginase deficiency1 test
    Atrophia bulborum hereditaria1 test
    Autosomal dominant optic atrophy classic form1 test
    Avellino corneal dystrophy1 test
    Azorean disease1 test
    Breast-ovarian cancer, familial 11 test
    CHARGE association1 test
    CYP2C19-related poor drug metabolism1 test
    Carney-Stratakis syndrome1 test
    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 11 test
    Charcot-Marie-Tooth Neuropathy X Type 11 test
    Charcot-Marie-Tooth disease and deafness1 test
    Charcot-Marie-Tooth disease, demyelinating, type 1b1 test
    Charcot-Marie-Tooth disease, type 2A2A1 test
    Charcot-Marie-Tooth disease, type IA1 test
    Childhood-onset cerebral X-linked adrenoleukodystrophy1 test
    Cholestasis, progressive familial intrahepatic 11 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
    Deafness, autosomal dominant 3a1 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 lymphohistiocytosis1 test
    Familial hemophagocytic lymphohistiocytosis 11 test
    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 Paraganglioma-Pheochromocytoma Syndromes1 test
    Hereditary breast and ovarian cancer syndrome2 tests
    Hereditary insensitivity to pain with anhidrosis1 test
    Hereditary spastic paraplegia 3A1 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 myopathy, encephalopathy, lactic acidosis AND stroke1 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
    Limb-girdle muscular dystrophy, autosomal recessive2 tests
    Loeys-Dietz syndrome2 tests
    Long QT syndrome 21 test
    Long QT syndrome 31 test
    Lynch syndrome2 tests
    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
    Parkinson disease 21 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 31 test
    Progressive myositis ossificans2 tests
    Pseudohypoparathyroidism1 test
    Retinoblastoma1 test
    Smith-Lemli-Opitz syndrome1 test
    Spastic paraplegia 4, autosomal dominant1 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 methyltransferase deficiency2 tests
    Thrombophilia due to protein S deficiency, autosomal dominant1 test
    Thrombophilia due to thrombin defect1 test
    Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant1 test
    Tuberous sclerosis 11 test
    Tuberous sclerosis 21 test
    Type II Collagenopathies1 test
    Vitamin K-dependent clotting factors, combined deficiency of, 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
    von Willebrand disorder1 test
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