Laboratory name
삼성의료원 삼성LAB

Director

Address
서울시 강남구 일원동 50번지 삼성 LAB 135-710

Contact
02-3410-2710

Homepage
https://www.samsunghospital.com/smchome/genetics/reqexam/hgExamCodeList.jsp

Disease treatment
Progressive familial intrahepatic cholestasis
 Progressive familial intrahepatic cholestasis
Medium chain acyl-CoA dehydrogenase deficiency
 Medium chain acyl-CoA dehydrogenase deficiency
진행성 골화성 섬유성 골이형성증
 Fibrodysplasia ossificans progressiva
유전성 출혈성 모세혈관 확장(오슬러-웨버-렌두씨 병)
 Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease)
가족성 대장 폴립증
 Familial adenomatous polyposis
가드너 증후군
 Gardner syndrome
Kennedy disease
 Kennedy disease
Partial androgen insensitivity 증후군
 Partial androgen insensitivity syndrome
시트룰린혈증
 Citrullinemia
유전성 강직성 대 마비
 Hereditary spastic paraplegia
멘케스병
 Menkes disease
윌슨병
 Wilson disease
만성 골수증식성 질환
 Chronic myeloproliferative disease
유전성 저 감마글로불린혈증
 Hereditary hypogammaglobulinemia
Hypokalemic periodic paralysis
 Hypokalemic periodic paralysis
척수소뇌성 실조증(제6형)
 Spinocerebellar ataxia type 6
Familial paroxysmal ataxia
 Familial paroxysmal ataxia
낭성 섬유증
 Cystic fibrosis
불완전 골형성증
 Osteogenesis imperfecta
Ehlers-Danlos syndrome, vascular type
 Ehlers-Danlos syndrome, vascular type
Pseudoachondroplasia
 Pseudoachondroplasia
다발성 골단이형성증
 Multiple epiphyseal dysplasia
만성 육아종 병
 Chronic granulomatous disease, CGD
21-수산기 효소결핍증
 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form
판코니 빈혈
 Fanconi anemia
얼굴어깨위팔형 근육퇴행위축
 Facioscapulohumeral dystrophy
스미스-렘리-오피쯔 증후군
 Smith-Lemli-Opitz syndrome
Duchenne형 근육퇴행위축, Becker형 근육퇴행위축
 Duchenne and Becker muscular dystrophy
선천 근육긴장증
 Steinert myotonic dystrophy
Dentatorubral-pallidoluysian atrophy
 Dentatorubral-pallidoluysian atrophy
Miyoshi myopathy
 Miyoshi myopathy
주기 호중구 감소증
 Cyclic neutropenia
윌리암스 증후군
 Williams syndrome
다발 선천 뼈돌출증
 Multiple congenital exostoses
Non rare thrombophilia
 Non rare thrombophilia
Congenital factor XII deficiency
 Congenital factor XII deficiency
혈우병 B
 Hemophilia B
티로신혈증
 Tyrosinemia
마르팡 증후군
 Marfan’s syndrome
Pfeiffer 증후군
 Pfeiffer syndrome
크루종 병
 Crouzon`s disease
연골무형성증
 Achondroplasia
연골 발육부전
 Hypochondroplasia
여린엑스 증후군
 Fragile X syndrome
제 1형 당원 축적 병
 Glycogen storage disease type 1
제 II형 당원 축적 병
 Glycogen storage disease type 2
크라베병
 Krabbe disease
갈락토오스혈증
 Galactosemia
고세 병
 Gaucher`s disease
Dopa-responsive dystonia
 Dopa-responsive dystonia
알렉산더 병
 Alexander disease
Congenital vitamin K-dependent coagulation factors deficiency
 Congenital vitamin K-dependent coagulation factors deficiency
X-linked Charcot-Marie-Tooth disease
 X-linked Charcot-Marie-Tooth disease
Nonsyndromic hearing loss, autosomal dominant (DFNA)
 Nonsyndromic hearing loss, autosomal dominant (DFNA)
Distal myopathy, Nonaka type
 Distal myopathy, Nonaka type
중증성 지중해 빈혈
 Beta-thalassemia major
헌팅톤병
 Huntington disease
MODY 증후군
 MODY syndrome
레쉬-니한 증후군
 Lesch-Nyhan syndrome
II형 점액다당질증
 Mucopolysaccharidosis, type II
I형 점액다당질증
 Mucopolysaccharidosis, type I
중증복합면역결핍증
 Severe combined immunodeficiency
Alagille 증후군
 Alagille syndrome
진성적혈구 증가증
 Polycythemia vera
칼만증후군
 Kallmann`s syndrome
Romano-Ward 증후군
 Romano-Ward syndrome
누난 증후군
 Noonan syndrome
가족성 과콜레스테롤혈증
 Familial hypercholesterolemia
Miller-Dieker 증후군
 Miller-Dieker syndrome
전두측두엽 치매
 Frontotemporal dementia
레트 증후군
 Rett syndrome
샤르코-마리-투스 병
 Charcot-Marie-Tooth disease
척수소뇌성실조증(제3형)
 Spinocerebellar ataxia type 3
레버씨 선천성 시신경병증
 Leber hereditary optic neuropathy
리병
 Leigh disease
Nonsyndromic hearing loss, mitochondrial
 Nonsyndromic hearing loss, mitochondrial
MERRF 증후군
 MERRF syndrome
MELAS 증후군
 MELAS syndrome
노리 병
 Norrie disease
제1형 신경섬유종증
 Neurofibromatosis type 1
제2형 신경섬유종증
 Neurofibromatosis type 2
CADASIL 증후군
 CADASIL syndrome
Cytomegalic congenital adrenal hypoplasia
 Cytomegalic congenital adrenal hypoplasia
Hereditary sensory and autonomic neuropathy, type 4
 Hereditary sensory and autonomic neuropathy, type 4
Autosomal dominant optic atrophy, classic type
 Autosomal dominant optic atrophy, classic type
Ornithine carbamoyltransferase deficiency
 Ornithine carbamoyltransferase deficiency
눈인두근(육)디스트로피
 Oculopharyngeal muscular dystrophy
전형적 페닐케톤뇨증
 Classical phenylketonuria
Hereditary Parkinson disease
 Hereditary Parkinson disease
무홍채증
 Aniridia
프로피온산혈증
 Propionic acidemia
상염색체 우성 다낭성 신 증후군
 Autosomal dominant polycystic kidney disease
Hereditary neuropathy with liability to pressure palsies
 Hereditary neuropathy with liability to pressure palsies
Hereditary thrombophilia due to congenital protein C deficiency
 Hereditary thrombophilia due to congenital protein C deficiency
Hereditary thrombophilia due to congenital protein S deficiency
 Hereditary thrombophilia due to congenital protein S deficiency
Early-onset autosomal dominant Alzheimer disease
 Early-onset autosomal dominant Alzheimer disease
코우텐 증후군
 Cowden syndrome
LEOPARD 증후군
 LEOPARD syndrome
프라더 윌리 증후군
 Prader-Willi syndrome
엔젤만 증후군
 Angelman syndrome
디 죠지 증후군
 Di George`s syndrome
다운 증후군
 Down syndrome
Multiple endocrine neoplasia type 2
 Multiple endocrine neoplasia type 2
망막색소변성
 Retinitis pigmentosa
X염색체관련 (연소기) 망막층간분리
 X-linked retinoschisis
척수소뇌성 실조증(제1형)
 Spinocerebellar ataxia type 1
척수소뇌성 실조증(제2형)
 Spinocerebellar ataxia type 2
척수소뇌성 실조증(제7형)
 Spinocerebellar ataxia type 7
척수소뇌성 실조증(제8형)
 Spinocerebellar ataxia type 8
Hereditary thrombophilia due to congenital antithrombin deficiency
 Hereditary thrombophilia due to congenital antithrombin deficiency
Myoclonic dystonia
 Myoclonic dystonia
기텔만 증후군
 Gitelman syndrome
펜드레드 증후군
 Pendred syndrome
Juvenile gastrointestinal polyposis
 Juvenile gastrointestinal polyposis
유아성 척수성 근육 위축, I 형
 Spinal muscular atrophy, type I
Smith-Magenis 증후군
 Smith-Magenis syndrome
근육위축가쪽경화증
 Amyotrophic lateral sclerosis
46,XY complete gonadal dysgenesis
 46,XY complete gonadal dysgenesis
고 면역 글로불린 E 증후군
 Hyper IgE Syndrome
Peuz-Jegher 증후군
 Peutz-Jeghers syndrome
각막 이영양증
 Corneal dystrophy
Aortic aneurysm syndrome, Loeys-Dietz type
 Aortic aneurysm syndrome, Loeys-Dietz type
Early onset torsion dystonia
 Early onset torsion dystonia
리-프라우메니 증후군
 Li-Fraumeni syndrome
결절성 경화증
 Tuberous sclerosis
눈피부 백색증
 Oculocutaneous albinism
폰힙펠-란도우병
 Von Hippel-Lindau disease
폰 빌레브란트 병
 Von Willebrand disease
비스코트-올드리치 증후군
 Wiskott-Aldrich syndrome