전체 검사 질환 목록

는 검사하는 질환의 개수에 따라 기본형과 확장형으로 나뉩니다

기본형

기본형에는 다음과 같은 질환에 대한 유전적 요인을 확인하게 됩니다.

· 정부 지원 질환 6종 (내분비질환 포함)

· 탠덤질량분석(tandem mass spectrometry)으로 신생아 선별 검사를 시행하고
있는 질환 50여 종

· 리소좀축적질환(Lysosomal storage disease) 질환 10종

확장형

확장형에는 기본형(152개 유전자)에 포함된 70여 종 질환과 함께 추가적으로 50여 종 질환에 대한 유전적 요인을 확인하게 됩니다.

· 기본형(152개 유전자)에 포함된 질환 70여 종

· 탠덤질량분석(tandem mass spectrometry)으로 확인이 어려운 추가유전성
대사질환 30여 종

· 당원축적병(glycogen storage disease) 10여 종

· 청력 손실(hearing loss)

· 헤모글로빈 질환(hemoglobin disorders)

· 중증면역결핍장애(Severe combined immunodeficiency)

· 비용혈성 고빌리루빈혈증(congenital nonhemolytic hyperbilirubinemia)

질환명 검사 유전자 수 기본형 확장형
Basic Screening 33 Genes
Congenital hypothyroidism 23
Congenital adrenal hyperplasia 7
Galactosemia* 3
Metabolic Disorders 50 Genes
(MS/MS-Fatty Acid/Organic acid disorders)
2,4-dienoyl-CoA reductase deficiency 2
2-methylbutyryl-CoA dehydrogenase deficiency 1
3-hydroxy-3-methylglutaryl-CoA lyase deficiency* 1
3-hydroxyacyl-CoA dehydrogenase deficiency* 1
3-hydroxyisobutryl-CoA hydrolase deficiency 1
3-Methylcrotonyl-CoA carboxylase 1 deficiency 1
3-Methylcrotonyl-CoA carboxylase 2 deficiency 1
3-Methylglutaconic aciduria 4
Acyl-CoA dehydrogenase family member type
9 deficiency
1
Adrenoleukodystrophy 1
Alpha-methylacetoacetic aciduria
(beta-ketothiolase deficiency)*
1
Biotinidase deficiency 1
Carnitine palmitoyltransferase deficiency I* 1
Carnitine palmitoyltransferase deficiency II* 1
Carnitine-acylcarnitine translocase deficiency* 1
Ethylmalonic encephalopathy 1
Glutaric aciduria* 5
Holocarboxylase synthetase deficiency* 1
Isobutyryl-CoA dehydrogenase deficiency 1
Isovaleric acidemia* 1
Long chain acyl-CoA dehydrogenase deficiency 1
Malonyl-CoA decarboxylase deficiency 1
Medium chain Acyl-CoA dehydrogenase deficiency* 1
Methylmalonic acidemia* 8
Methylmalonic acidemia/Homocystinuria* 4
Propionic acidemia* 2
Short chain Acyl-CoA dehydrogenase deficiency 1
Systemic primary carnitine deficiency 1
Trifunctional protein deficiency* 2
Very long chain Acyl-CoA dehydrogenase deficiency* 1
Metabolic Disorders 47 Genes
(MS/MS: Amino acid disorders)
Argininosuccinic aciduria* 1
Carbamoylphosphate synthetase I deficiency 1
Citrullinemia* 2
Dihydrolipoyl dehydrogenase deficiency 1
Glutathione synthetase deficiency 1
Glycine encephalopathy 5
Hartnup disease 1
Histidinemia 1
Homocystinuria 4
Hyperargininemia 1
Hyperlysinemia 1
Hypermethioninemia 4
Hyperphenylalaninemia 5
Hyperprolinemia 3
Lysinuric protein intolerance 1
Maple Syrup Urine Disease* 4
N-acetylglutamate synthase deficiency 1
Ornithine aminotransferase deficiency 1
Ornithine transcarbamylase deficiency 1
질환명 검사 유전자 수 기본형 확장형
Ornithine translocase deficiency 1
Phosphoglycerate dehydrogenase deficiency 1
Phosphoserine aminotransferase deficiency 1
Phosphoserine phosphatase deficiency 1
Pyruvate carboxylase deficiency 1
Tyrosinemia 3
Metabolic Disorders 22 Genes
(Lysosomal storage disease)
Mucopolysaccharidosis 11
Cystinosis 1
Fabry disease 1
Gaucher disease 1
Krabbe disease 1
Atypical Krabbe disease/Atypical Gaucher disease 1
Lysosomal acid lipase deficiency 1
Metachromatic leukodystrophy 1
Niemann-Pick disease 3
Pompe disease 1
Metabolic Disorders 37 Genes
(Others)
17-beta-hydroxysteroid dehydrogenase X deficiency 1
3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency 1
5-oxoprolinase deficiency 1
Acrodermatitis enteropathica 1
Acute intermittent porphyria 1
Alkaptonuria 1
Alpha-1-Antitrypsin deficiency 1
Aromatic l-amino acid decarboxylase deficiency 1
Biotin-thiamine-responsive basal ganglia disease 1
Branched-chain ketoacid dehydrogenase
kinase deficiency
1
Cerebral creatine deficiency syndrome 3
Cystic fibrosis 1
Cystinuria 2
Dystonia, Dopa-responsive, due to sepiapterin
reductase deficiency
1
Familial hypobetalipoproteinemia/
hypercholesterolemia
1
Formiminoglutamic aciduria 1
Glycolic aciduria 1
Hereditary fructose intolerance 1
Hereditary folate malabsorption 1
Hypocalcemia/Hypocalciuric hypercalcemia 2
Hypophosphatasia 1
Intrahepatic cholestasis 1
Kelley-Seegmiller syndrome/Lesch-Nyhan syndrome 1
Menkes disease 1
Mevalonic aciduria 1
Pyridoxamine 5'-phosphate oxidase deficiency 1
Pyruvate Dehydrogenase Complex Deficiency 4
Pyruvate kinase deficiency 1
Succinyl CoA:3-oxoacid CoA transferase deficiency 1
Wilson disease 1
Metabolic Disorders
(Glycogen Storage Diseases) 17 Genes
Glycogen storage disease 17
Others 53 Genes
Congenital nonhemolytic hyperbilirubinemia 4
Hemoglobin disorder 9
Hearing loss 17
Severe combined immunodeficiency 23

*Critical conditions following the 2014 society for inherited metabolic disorders position statement