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A
a-Galactosidase(생화학)
a-iduronidase(생화학)
a-N-Acetylglucosaminidase(생화학)
ABO genotyping(분당)
ABO genotyping(서울)
ABO subgroup, ABO sequencing (exon 6,7)
Achondroplasia, FGFR3, G380R
Achondroplasia, 가족검사, FGFR3 G380R
Acid a-glucosidase(생화학)
Agammaglobulinemia, X-linked, BTK, sequencing
Agammaglobulinemia, X-linked, 가족검사, BTK
Alagille syndrome, JAG1, sequencing
Alagille syndrome, 가족검사, JAG1
alpha Thalassemia, HBA1/HBA2, Sequencing, Del/Dup
alpha-Thalassemia, 가족검사, HBA1/HBA2
Amino acid(생화학)
AML1-ETO PCR
Amyotrophic lateral sclerosis, SOD1, sequencing
Amyotrophic lateral sclerosis, 가족검사, SOD1
Androgen insensitivity syndorme, AR, sequencing
Androgen insensitivity syndorme, 가족검사, AR
Antithrombin deficiency, SERPINC1, sequencing
Antithrombin deficiency, 가족검사, SERPINC1
Apo-E genotyping(분당)
Apo-E genotyping(서울)
Arylsulfatase A(생화학)
Arylsulfatase B(생화학)
B
b-galactosidase(생화학)
b-glucocerebrosidase(생화학)
b-glucosidase(생화학)
b-glucuronidase(생화학)
Bacterial Identification, rDNA (sequencing)(분당)
Bacterial Identification, rDNA, sequencing (서울)
BCR-ABL, 정량검사, real-time PCR (major, minor)
beta-Thalassemia, HBB sequencing
beta-Thalassemia, 가족검사, HBB
Biorinidase(생화학)
BK virus, 정량검사, real-time PCR
BK/JC virus, PCR
BMT monitoring, post-BMT test (STR)
BMT monitoring, pre-BMT test (STR)
Borrelia burgdoferi, PCR
BRCA1 sequencing
BRCA1/2,가족검사
BRCA2 sequencing
C
CACNA1A, sequencing
CACNA1A, 가족검사
CADASIL, 가족검사, NOTCH3
CADASIL,NOTCH3 sequencing (exon2-23)
Carbohydrate screening(생화학)
Carnitine 2분획(생화학)
Chlamydia trachomatis, PCR(분당)
CMT, GJB1, sequencing
CMT, MPZ sequencing
CMT, 가족검사, GJB1
CMT, 가족검사, MPZ
CMT/HNPP, PMP22 sequencing
CMT/HNPP, 가족검사, PMP22
CMT1A/HNPP, PMP22, dup/del
Corneal dystrophy, TGFBI, sequencing
Corneal dystrophy, 가족검사, TGFBI
CYP2C19, major genotyping
CYP2C9, major genotyping
Cytomegalovirus, PCR(분당)
Cytomegalovirus, PCR(서울)
Cytomegalovirus, 정량검사, real-time PCR
D
Deafness, GJB2 sequencing
Deafness, mtDNA 1555A>G
Deafness, mtDNA 7445A>C
Deafness, 가족검사, GJB2
DMD/BMD carrier test
DMD/BMD exon del/dup test
DMD/BMD linkage test
DMD/BMD prenatal test, exon del/dup
Dopa-responsive dystonia, GCH1, sequencing
Dopa-responsive dystonia, 가족검사, GCH1
DRPLA
DYT1, TOR1A, GAG deletion
E
E2A-PBX1 PCR
Early-onset familial Alzheimer disease, PSEN1, sequencing, del/dup
Early-onset familial Alzheimer disease, 가족검사, PSEN1
EHEC, PCR
Enterovirus, PCR(분당)
Enterovirus, PCR(서울)
Epstein-Barr virus, PCR(분당)
Epstein-Barr virus, PCR(서울)
Epstein-Barr virus, 정량검사, real-time PCR
F
Factor V Leiden,1691G>A
Ferric chloride test(생화학)
FLT3, ITD (internal tandem duplication)
FLT3, TKD (terminal kinase domain) mutation
Fragile X syndrome
Friedreich ataxia
Frontotemporal dementia, MAPT, sequencing
Frontotemporal dementia, 가족검사, MAPT
Fungal Identification, rDNA, sequencing (분당)
Fungal Identification, rDNA, sequencing (서울)
G
Galactosylcerebrosidase(생화학)
Glycogen storage disease type 3, AGL, sequencing
Glycogen storage disease type 3, 가족검사 ,AGL
GSD1a, G6PC mutation, 727G>T
GSD1a, G6PC, sequencing
GSD1a, 가족검사, G6PC
H
Hantaan virus, PCR
HBV PCR
HBV viral load(분당)
HBV viral load(서울)
HBV YMDD mutation (Lamivudine Resistance)
HCV viral load(분당)
HCV viral load(서울)
Hemochromatosis, HFE, C282Y
Hepatitis C virus, PCR(분당)
Hepatitis C virus, PCR(서울)
Hereditary spastic paraplegia, SPG3A, sequencing
Hereditary spastic paraplegia, 가족검사, SPG3A
Herpes simplex virus, PCR(분당)
Herpes simplex virus, PCR(서울)
Hexosaminidase A assay(생화학)
HIV drug resistance mutation, sequencing
HIV viral load
HIV 정량검사용 혈액채취료 및 보관비
Homovanillic acid(생화학)
HPV genotyping (DNA microarray test)
Human papilloma virus, hybrid capture (high risk)
Human papilloma virus, hybrid capture (high risk)-분당
Human papilloma virus, hybrid capture (low risk)
Huntington disease
Huntington Disease-Like 2 (HDL2)
Hypokalemic periodic paralysis, CACNA1S,sequencing
Hypokalemic periodic paralysis, 가족검사, CACNA1S
J
JAK2 gene, p,V617F mutation
L
LDL particle size 분석(생화학)
Legionella pneumophila, PCR
LHON, 3종(3460, 11778, 14484)
LHON, 4종(3460,11778,14484,4171)
LHON, MT-ND1, MT-MD4, MT-ND6, Sequencing
LHON, MT-ND1, MT-MD4, MT-ND6, Sequencing
LHON, MT-ND1, MT-MD4, MT-ND6, 가족검사, Sequencing
LHON, mtDNA 11778G>A
LHON, mtDNA 14484T>C
LHON, mtDNA 3460G>A
LHON, mtDNA 4171C>A
Long QT syndrome, KCNE1, sequencing
Long QT syndrome, KCNE2, sequencing
Long QT syndrome, KCNH2, sequencing
Long QT syndrome, KCNQ1, sequencing
Long QT syndrome, SCN5A, sequencing
Long QT syndrome, 가족검사, KCNE1
Long QT syndrome, 가족검사, KCNE2
Long QT syndrome, 가족검사, KCNH2
Long QT syndrome, 가족검사, KCNQ1
Long QT syndrome, 가족검사, SCN5A
Low GGT familial intrahepatic cholestasis, ABCB11, sequencing
Low GGT familial intrahepatic cholestasis, ATP8B1, sequencing
Low GGT familial intrahepatic cholestasis, 가족검사, ABCB11
Low GGT familial intrahepatic cholestasis, 가족검사, ATP8B1
M
M. tuberculosis, PCR(분당)
M. tuberculosis, PCR(서울)
Major BCR-ABL PCR
Malaria, PCR(분당)
Malaria, PCR(서울)
Marfan syndrome, FBN1, sequencing
Marfan syndrome,가족검사, FBN1
MELAS, MT-TL1, sequencing
MERRF, MT-TK, sequencing
Methylmalonic acid 정량(생화학)
Minor BCR-ABL PCR
MLL, PTD (partial tandem duplication)
MODY3 ,TCF1, sequencing
MODY3 ,가족검사,TCF1
Morquio A(생화학)
MOTT (NTM), PCR
MOTT(NTM) Identification
MTHFR, 1298A>C
MTHFR, 677C>T
MTHFR, 677C>T & 1298A>C
Mucopolysaccharid (정성)검사(생화학)
Mucopolysaccharidosis EP (진단검사)(생화학)
Multiple endocrine neoplasia type 2, RET, sequencing
Multiple endocrine neoplasia type 2,가족검사, RET
Multiple epiphyseal dysplasia, COMP, sequencing
Multiple epiphyseal dysplasia, MATN3, sequencing
Multiple epiphyseal dysplasia, 가족검사, COMP
Multiple epiphyseal dysplasia, 가족검사, MATN3
Mycobacterium Identification, rDNA, sequencing
Mycoplasma pneumoniae, PCR
Myotonic dystrophy (DM1)
N
Neonatal screening test (NST total)(생화학)
Neonatal screening test (Tandem mass only)(생화학)
Neuraminidase(생화학)
Neurofibromatosis 1, NF1, sequencing, del/dup
Neurofibromatosis 1, 가족검사, NF1
Neurofibromatosis 2, NF2, sequencing
Neurofibromatosis 2, 가족검사, NF2
Noonan syndrome, PTPN11, sequencing
Noonan syndrome, 가족검사, PTPN11
Norrie Disease, NDP sequencing
Norrie disease, 가족검사, NDP
NPM1 mutation
O
OPMD, PABPN1, GCN repeat expansion
Organic acid(생화학)
Orotic acid(생화학)
Osteogenesis Imperfecta (OI), COL1A1/COL1A2, seque
Osteogenesis Imperfecta (OI), 가족검사, COL1A1/COL1A2
P
Parkinson disease, PARK2, sequencing, del/dup
Parkinson disease, 가족검사, PARK2
Parvovirus B19, PCR(분당)
Parvovirus B19, PCR(서울)
Parvovirus B19, 정량검사, real-time PCR
Pendred syndrome, SLC26A4, sequencing
Pendred syndrome, 가족검사, SLC26A4
Phenylalanine/Tyrosin panel(생화학)
PML-RARA PCR
Pneumocystis jiroveci (P. carinii), PCR
Polycystic kidney disease 2, 가족검사,PKD2
Polycystic kidney disease 2, PKD2,sequencing
Prader-Willi/Angelman Syndrome, methylaton PCR
Protein C deficiency, PROC, sequencing
Protein C deficiency, 가족검사, PROC
Protein S deficiency, PROS1, sequencing
Protein S deficiency, 가족검사, PROS1
Prothrombin G20210A
R
Respiratory virus, PCR panel
Retinoschisis, RS1, sequencing
Retinoschisis, 가족검사, RS1
RETT syndrome, MECP2, sequencing
RETT syndrome, 가족검사, MECP2
RhCcEe genotyping
S
SBMA (Kennedy disease)
SCA panel (SCA1,2,3,6,7)
SCA1
SCA17
SCA2
SCA3
SCA6
SCA7
SMA, SMN1 deletion
SPG4, Hereditary spastic paraplegia, SPAST sequencing
SPG4, Hereditary spastic paraplegia, 가족검사, SPAST
T
TB drug(생화학)
TEL-AML1 PCR
TPMT (1) genotyping, major
Tuberous sclerosis, TSC1/TSC2, Sequencing, Del/dup
Tuberous sclerosis, 가족검사, TSC1/TSC2
U
Ureaplasma urealyticum, PCR(분당)
Ureaplasma urealyticum, PCR(서울)
V
Varicella-zoster virus, PCR(분당)
Varicella-zoster virus, PCR(서울)
VHL syndrome, VHL, sequencing, del/dup
VHL syndrome, 가족검사, VHL
VMA정량(생화학)
von Willebrand disease, VWF, sequencing
von Willebrand disease, 가족검사, VWF
W
Wilson disease, ATP7B. major mutations
Wilson disease, ATP7B. sequencing
Wilson disease, 가족검사, ATP7B
Wiskott-Aldrich syndrome, WAS, sequencing
Wiskott-Aldrich syndrome, 가족검사, WAS
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snuh-dnalab
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