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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, G380R
Achondroplasia, 가족검사, 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 squencing, del/dup
alpha-Thalassemia, 가족검사, HBA1/HBA2
Amino acid(생화학)
Amyotrophic lateral sclerosis, SOD1 sequencing
Amyotrophic lateral sclerosis, 가족검사, SOD1
Androgen insensitivity syndorme, AR sequencing
Androgen insensitivity syndorme, 가족검사, AR
Aniridia, PAX6 sequencing
Aniridia, 가족검사, PAX6
Antithrombin deficiency, SERPINC1 sequencing
Antithrombin deficiency, 가족검사, SERPINC1
Apo-E genotyping(분당)
Apo-E genotyping(서울)
Arylsulfatase A(생화학)
Arylsulfatase B(생화학)
B
b-galactocerebrosidase(생화학)
b-galactosidase(생화학)
b-glucosidase(생화학)
b-glucuronidase(생화학)
BAALC mRNA, 정량, real-time RT-PCR
Bacterial Identification, rDNA (sequencing)(분당)
Bacterial Identification, rDNA sequencing (서울)
BCR-ABL1 rearrangement, 정량, real-time RT-PCR (Major, minor)
BCR-ABL1, drug resistant mutation, sequencing
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)
Bordetella pertussis PCR
Borrelia burgdoferi PCR
BRAF, exon 15, sequencing
BRCA1 sequencing
BRCA1/2,가족검사
BRCA2 sequencing
C
CADASIL, NOTCH3 sequencing
CADASIL, 가족검사, NOTCH3
Carbohydrate screening(생화학)
Carnitine 2분획(생화학)
CBFB-MYH11 rearrangment, 정량, real-time RT-PCR
Chlamydia trachomatis, PCR(분당)
Citrin deficiency, SLC25A13 sequencing
Citrin deficiency, 가족검사, SLC25A13
Citrullinemia type I, ASS1 sequencing
Citrullinemia type I, 가족검사, ASS1
CMT, GJB1 (cx32) sequencing
CMT, MPZ sequencing
CMT, 가족검사, GJB1(cx32)
CMT, 가족검사, MPZ
CMT/HNPP, PMP22 sequencing
CMT/HNPP, 가족검사, PMP22
CMT1A/HNPP, PMP22 dup/del test
CMT2, MFN2 sequencing
CMT2, 가족검사, MFN2
Congenital Insensitivity to Pain with Anhidrosis; HSAN Type IV, NTRK1 sequencing
Congenital Insensitivity to Pain with Anhidrosis; HSAN Type IV, 가족검사, NTRK1
Corneal dystrophy, TGFBI sequencing
Corneal dystrophy, 가족검사, TGFBI
CYP2C19, major genotyping
CYP2C9, major genotyping
Cystic fibrosis, CFTR sequencing
Cystic fibrosis, 가족검사, CFTR
Cytomegalovirus PCR(서울)
Cytomegalovirus, PCR(분당)
Cytomegalovirus, 정량검사, real-time PCR
D
Deafness, GJB2 sequencing
Deafness, MT-RNR1, m.1555A>G
Deafness, MT-TS1, m.7445A>G
Deafness, 가족검사, GJB2
DMD/BMD, carrier test
DMD/BMD, exon del/dup test
DMD/BMD, linkage test
Dopa-responsive dystonia, GCH1 sequencing
Dopa-responsive dystonia, 가족검사, GCH1
DRPLA
DYT1, GAG deletion
E
E2A-PBX1 (TCF3-PBX1) rearrangement, RT-PCR
Early-onset familial Alzheimer disease, PSEN1 sequencing
Early-onset familial Alzheimer disease, 가족검사, PSEN1
EGFR, exon 18-21, sequencing
EHEC, PCR
Ehlers-Danlos syndrome type IV, COL3A1 sequencing
Ehlers-Danlos syndrome type IV, 가족검사, COL3A1
Enterovirus, PCR(분당)
Enterovirus, PCR(서울)
Epstein-Barr virus, PCR(분당)
Epstein-Barr virus, PCR(서울)
Epstein-Barr virus, 정량검사, real-time PCR
ETV6-RUNX1 (TEL-AML1) rearrangement, RT-PCR
ETV6-RUNX1 (TEL-AML1) rearrangement, 정량, real-time RT-PCR
F
Factor V Leiden thrombophilia, F5, 1691G>A (R506Q)
Familial adenomatous polyposis, APC sequencing
Familial adenomatous polyposis, 가족검사 , APC
Familial hemiplegic migraine, episodic ataxia type 2, CACNA1A sequencing
Familial hemiplegic migraine, episodic ataxia type 2, 가족검사, CACNA1A
Familial Hypokalemic periodic paralysis, SCN4A sequencing
Familial Hypokalemic periodic paralysis, 가족검사, SCN4A
Ferric chloride test(생화학)
FGFR1 sequencing
FGFR1, 가족검사
FGFR2 sequencing
FGFR2, 가족검사
FGFR3 sequencing
FGFR3, 가족검사
FLT3, ITD & TKD
Fragile X syndrome (FRAXA), FMR1 PCR & Southern
Friedreich ataxia (FRDA), GAA repeat, PCR & Southern
Frontotemporal dementia, MAPT sequencing
Frontotemporal dementia, 가족검사, MAPT
Fungal Identification, rDNA sequencing (서울)
Fungal Identification, rDNA, sequencing (분당)
G
Galactosemia type II, GALK1 sequencing
Galactosemia type II, 가족검사, GALK1
Galactosemia, GALE sequencing
Galactosemia, 가족검사, GALE
Galactosylcerebrosidase(생화학)
Gaucher disease, GBA sequencing
Gaucher disease, 가족검사, GBA
Glycogen storage disease type 3, AGL sequencing
Glycogen storage disease type 3, 가족검사 ,AGL
GSD1a, G6PC sequencing
GSD1a, 가족검사, G6PC
GST, genotyping
H
Hantaan virus PCR
HBV PCR
HBV viral load (정량검사)
HBV viral load(분당)
HBV YMDD mutation (Lamivudine Resistance)
HCV viral load (정량검사)
HCV viral load(분당)
Hemochromatosis, C282Y
Hepatitis C virus PCR(서울)
Hepatitis C virus, PCR(분당)
Hereditary multiple osteochondromas, EXT1 sequencing
Hereditary multiple osteochondromas, EXT2 sequencing
Hereditary multiple osteochondromas, 가족검사, EXT1
Hereditary multiple osteochondromas, 가족검사, EXT2
Hereditary Non-Polyposis Colon Cancer (HNPCC), 가족검사, MLH1/MSH2
Hereditary Non-Polyposis Colon Cancer (HNPCC), MLH1/MSH2 sequencing
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 (정량검사)
Homovanillic acid(생화학)
HPV genotyping (DNA microarray test)
Human herpes virus 6 (HHV6) PCR
Human herpes virus 8 (HHV8) PCR
Human papilloma virus, hybrid capture (high risk)
Human papilloma virus, hybrid capture (high risk)-분당
Huntington Disease-Like 2 (HDL2)
Huntington's disease
Hypokalemic periodic paralysis, CACNA1S sequencing
Hypokalemic periodic paralysis, 가족검사, CACNA1S
I
IgH rearrangement
Influenza A virus subtyping
J
JAK2, exon 12 sequencing
JAK2, V617F
Juvenile Polyposis Syndrome, SMAD4 sequencing
Juvenile Polyposis Syndrome, 가족검사, SMAD4
K
KIT, mutation, sequencing
KRAS mutation (codon 12, 13, 61 포함), sequencing
L
LDL particle size 분석(생화학)
Legionella pneumophila, PCR
Leukemia gene rearrangement (Hemavision), multiplex nested RT-PCR
LHON, 3종(3460, 11778, 14484)
LHON, 4종(3460,11778,14484,4171)
LHON, MT-ND1, m.3460G>A
LHON, MT-ND1, m.4171C>A
LHON, MT-ND1, MT-MD4, MT-ND6 sequencing
LHON, MT-ND1, MT-MD4, MT-ND6, 가족검사
LHON, MT-ND4, m.11778G>A
LHON, MT-ND6, m.14484T>C
Li-Fraumeni syndrome, TP53 sequencing
Li-Fraumeni syndrome, 가족검사, TP53
Loeys-Dietz syndrome, TGFBR1 sequencing
Loeys-Dietz syndrome, TGFBR2 sequencing
Loeys-Dietz syndrome, 가족검사, TGFBR1
Loeys-Dietz syndrome, 가족검사, TGFBR2
Long QT syndrome, KCNH2 sequencing
Long QT syndrome, KCNQ1 sequencing
Long QT syndrome, SCN5A sequencing
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(서울)
M. tuberculosis, PCR(분당)
Major BCR-ABL1 rearrangement, RT-PCR
Malaria, PCR(분당)
Malaria, PCR(서울)
Marfan syndrome, FBN1 sequencing
Marfan syndrome, 가족검사, FBN1
MELAS, MT-TL1 sequencing
Menkes disease, ATP7A sequencing
Menkes disease, 가족검사, ATP7A
MERRF, MT-TK sequencing
Methylmalonic acid 정량(생화학)
Microsatellite instability (MSI)
Minor BCR-ABL1 rearrangement, RT-PCR
MODY3 (maturity-onset diabetes of the young), TCF1 sequencing
MODY3 (maturity-onset diabetes of the young), 가족검사, TCF1
Morquio A(생화학)
MOTT (NTM), PCR
MOTT(NTM) Identification
MTHFR, 1298A>C
MTHFR, 677C>T
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
Myoclonus-dystonia, SGCE sequencing
Myoclonus-dystonia, 가족검사, SGCE
Myotonic dystrophy (DM1), DMPK PCR & Southern
N
NARP, MT-ATP6 sequencing
NAT2, major genotyping
Neonatal screening test (NST total)(생화학)
Neonatal screening test (Tandem mass only)(생화학)
Neuraminidase(생화학)
Neurofibromatosis 1, NF1 sequencing
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
NPM1 mutation, mRNA 정량, real-time RT-PCR
NRAS mutation (codon 12, 13, 61 포함), sequencing
O
OPMD, PABPN1, GCN repeat expansion
Optic atrophy type 1, OPA1 sequencing
Optic atrophy type 1, 가족검사, OPA1
Organic acid(생화학)
Ornithine transcarbamylase deficiency, OTC sequencing
Ornithine transcarbamylase deficiency, 가족검사, OTC
Orotic acid(생화학)
Osteogenesis Imperfecta (OI), COL1A1/COL1A2 sequencing
Osteogenesis Imperfecta (OI), 가족검사, COL1A1/COL1A2
P
Pandemic Influenza A virus (H1N1) 2009, Real-time RT PCR
Pantothenate kinase-associated neurodegeneration, PANK2 sequencing
Pantothenate kinase-associated neurodegeneration, 가족검사, PANK2
Parkinson disease, PARK2 sequencing
Parkinson disease, 가족검사, PARK2
Parvovirus B19 PCR(서울)
Parvovirus B19, PCR(분당)
Parvovirus B19, 정량검사, real-time PCR
Pendred syndrome, SLC26A4 sequencing
Pendred syndrome, 가족검사, SLC26A4
Peutz-Jeghers syndrome, STK11 sequencing
Peutz-Jeghers syndrome, 가족검사, STK11
Phenylalanine/Tyrosin panel(생화학)
PML-RARA rearrangement, RT-PCR
PML-RARA rearrangement, 정량, real-time RT-PCR
Pneumocystis jiroveci (P. carinii), PCR
Polycystic kidney disease 2, Autosomal dominant, PKD2 sequencing
Polycystic kidney disease 2, Autosomal dominant, 가족검사, PKD2
Pompe disease, GAA sequencing
Pompe disease, 가족검사, GAA
Prader-Willi/Angelman Syndrome, Methylation PCR
Protein C deficiency, PROC sequencing
Protein C deficiency, 가족검사, PROC
Protein S deficiency, PROS1 sequencing
Protein S deficiency, 가족검사, PROS1
Prothrombin thrombophilia, F2, 20210G>A
PTEN hamartoma tumor syndrome (PHTS), PTEN, sequencing
PTEN hamartoma tumor syndrome (PHTS), 가족검사, PTEN
R
Respiratory virus, PCR panel
Retinoblastoma, RB1 sequencing
Retinoblastoma, 가족검사, RB1 sequencing
Retinoschisis, RS1 sequencing
Retinoschisis, 가족검사, RS1
RETT syndrome, MECP2 sequencing
RETT syndrome, 가족검사, MECP2
RhCcEe genotyping
RUNX1-RUNX1T1 (AML1-ETO) rearrangement, RT-PCR
RUNX1-RUNX1T1 (AML1-ETO) rearrangement, 정량, real-time RT-PCR
S
SBMA (Kennedy disease)
SCA panel (SCA1,2,3,6,7)
SCA1
SCA17
SCA2
SCA3
SCA6
SCA7
SMA, SMN1 and SMN2 del/dup
SMA, SMN1 sequencing[이 검사 전에 L25280 SMA del/dup 검사를 먼저 시행해야 함]
SMA, 가족검사, SMN1 sequencing
Spastic paraplegia, SPG4 (SPAST) sequencing
Spastic paraplegia, 가족검사, SPG4 (SPAST)
T
TB drug(생화학)
TCR beta rearrangement
TCR gamma rearrangement
TPMT(1) genotyping
TPMT(2) gene sequencing
Tuberous sclerosis, TSC1/TSC2 Sequencing
Tuberous sclerosis, 가족검사, TSC1/TSC2
U
UGT1A1 sequencing
UGT1A1, 가족검사
Ureaplasma urealyticum PCR(서울)
Ureaplasma urealyticum, PCR(분당)
V
Varicella zoster virus PCR(서울)
Varicella zoster virus, PCR(분당)
VHL syndrome, VHL sequencing
VHL syndrome, 가족검사, VHL
VMA정량(생화학)
Von Willebrand disease, VWF sequencing
Von Willebrand disease, 가족검사, VWF
W
Wilson disease, ATP7B sequencing
Wilson disease, 가족검사, ATP7B
Wiskott-Aldrich syndrome, WAS sequencing
Wiskott-Aldrich syndrome, 가족검사, WAS
WT1 mRNA, 정량, real-time RT-PCR
개
개인식별검사, pre-BMT test (STR)
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snuh-dnalab
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