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A
a-Galactosidase(»ýÈÇÐ)
a-iduronidase(»ýÈÇÐ)
a-N-Acetylglucosaminidase(»ýÈÇÐ)
ABO genotyping(ºÐ´ç)
ABO genotyping(¼¿ï)
ABO subgroup, ABO sequencing (exon 6,7)
Achondroplasia, FGFR3, G380R
Achondroplasia, °¡Á·°Ë»ç, FGFR3 G380R
Acid a-glucosidase(»ýÈÇÐ)
Agammaglobulinemia, X-linked, BTK, sequencing
Agammaglobulinemia, X-linked, °¡Á·°Ë»ç, BTK
Alagille syndrome, JAG1, sequencing
Alagille syndrome, °¡Á·°Ë»ç, JAG1
alpha Thalassemia, HBA1/HBA2, Sequencing, Del/Dup
alpha-Thalassemia, °¡Á·°Ë»ç, HBA1/HBA2
Amino acid(»ýÈÇÐ)
AML1-ETO PCR
Amyotrophic lateral sclerosis, SOD1, sequencing
Amyotrophic lateral sclerosis, °¡Á·°Ë»ç, SOD1
Androgen insensitivity syndorme, AR, sequencing
Androgen insensitivity syndorme, °¡Á·°Ë»ç, AR
Antithrombin deficiency, SERPINC1, sequencing
Antithrombin deficiency, °¡Á·°Ë»ç, SERPINC1
Apo-E genotyping(ºÐ´ç)
Apo-E genotyping(¼¿ï)
Arylsulfatase A(»ýÈÇÐ)
Arylsulfatase B(»ýÈÇÐ)
B
b-galactosidase(»ýÈÇÐ)
b-glucocerebrosidase(»ýÈÇÐ)
b-glucosidase(»ýÈÇÐ)
b-glucuronidase(»ýÈÇÐ)
Bacterial Identification, rDNA (sequencing)(ºÐ´ç)
Bacterial Identification, rDNA, sequencing (¼¿ï)
BCR-ABL, Á¤·®°Ë»ç, real-time PCR (major, minor)
beta-Thalassemia, HBB sequencing
beta-Thalassemia, °¡Á·°Ë»ç, HBB
Biorinidase(»ýÈÇÐ)
BK virus, Á¤·®°Ë»ç, 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,°¡Á·°Ë»ç
BRCA2 sequencing
C
CACNA1A, sequencing
CACNA1A, °¡Á·°Ë»ç
CADASIL, °¡Á·°Ë»ç, NOTCH3
CADASIL,NOTCH3 sequencing (exon2-23)
Carbohydrate screening(»ýÈÇÐ)
Carnitine 2ºÐȹ(»ýÈÇÐ)
Chlamydia trachomatis, PCR(ºÐ´ç)
CMT, GJB1, sequencing
CMT, MPZ sequencing
CMT, °¡Á·°Ë»ç, GJB1
CMT, °¡Á·°Ë»ç, MPZ
CMT/HNPP, PMP22 sequencing
CMT/HNPP, °¡Á·°Ë»ç, PMP22
CMT1A/HNPP, PMP22, dup/del
Corneal dystrophy, TGFBI, sequencing
Corneal dystrophy, °¡Á·°Ë»ç, TGFBI
CYP2C19, major genotyping
CYP2C9, major genotyping
Cytomegalovirus, PCR(ºÐ´ç)
Cytomegalovirus, PCR(¼¿ï)
Cytomegalovirus, Á¤·®°Ë»ç, real-time PCR
D
Deafness, GJB2 sequencing
Deafness, mtDNA 1555A>G
Deafness, mtDNA 7445A>C
Deafness, °¡Á·°Ë»ç, 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, °¡Á·°Ë»ç, GCH1
DRPLA
DYT1, TOR1A, GAG deletion
E
E2A-PBX1 PCR
Early-onset familial Alzheimer disease, PSEN1, sequencing, del/dup
Early-onset familial Alzheimer disease, °¡Á·°Ë»ç, PSEN1
EHEC, PCR
Enterovirus, PCR(ºÐ´ç)
Enterovirus, PCR(¼¿ï)
Epstein-Barr virus, PCR(ºÐ´ç)
Epstein-Barr virus, PCR(¼¿ï)
Epstein-Barr virus, Á¤·®°Ë»ç, real-time PCR
F
Factor V Leiden,1691G>A
Ferric chloride test(»ýÈÇÐ)
FLT3, ITD (internal tandem duplication)
FLT3, TKD (terminal kinase domain) mutation
Fragile X syndrome
Friedreich ataxia
Frontotemporal dementia, MAPT, sequencing
Frontotemporal dementia, °¡Á·°Ë»ç, MAPT
Fungal Identification, rDNA, sequencing (ºÐ´ç)
Fungal Identification, rDNA, sequencing (¼¿ï)
G
Galactosylcerebrosidase(»ýÈÇÐ)
Glycogen storage disease type 3, AGL, sequencing
Glycogen storage disease type 3, °¡Á·°Ë»ç ,AGL
GSD1a, G6PC mutation, 727G>T
GSD1a, G6PC, sequencing
GSD1a, °¡Á·°Ë»ç, G6PC
H
Hantaan virus, PCR
HBV PCR
HBV viral load(ºÐ´ç)
HBV viral load(¼¿ï)
HBV YMDD mutation (Lamivudine Resistance)
HCV viral load(ºÐ´ç)
HCV viral load(¼¿ï)
Hemochromatosis, HFE, C282Y
Hepatitis C virus, PCR(ºÐ´ç)
Hepatitis C virus, PCR(¼¿ï)
Hereditary spastic paraplegia, SPG3A, sequencing
Hereditary spastic paraplegia, °¡Á·°Ë»ç, SPG3A
Herpes simplex virus, PCR(ºÐ´ç)
Herpes simplex virus, PCR(¼¿ï)
Hexosaminidase A assay(»ýÈÇÐ)
HIV drug resistance mutation, sequencing
HIV viral load
HIV Á¤·®°Ë»ç¿ë Ç÷¾×äÃë·á ¹× º¸°üºñ
Homovanillic acid(»ýÈÇÐ)
HPV genotyping (DNA microarray test)
Human papilloma virus, hybrid capture (high risk)
Human papilloma virus, hybrid capture (high risk)-ºÐ´ç
Human papilloma virus, hybrid capture (low risk)
Huntington disease
Huntington Disease-Like 2 (HDL2)
Hypokalemic periodic paralysis, CACNA1S,sequencing
Hypokalemic periodic paralysis, °¡Á·°Ë»ç, CACNA1S
J
JAK2 gene, p,V617F mutation
L
LDL particle size ºÐ¼®(»ýÈÇÐ)
Legionella pneumophila, PCR
LHON, 3Á¾(3460, 11778, 14484)
LHON, 4Á¾(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, °¡Á·°Ë»ç, 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, °¡Á·°Ë»ç, KCNE1
Long QT syndrome, °¡Á·°Ë»ç, KCNE2
Long QT syndrome, °¡Á·°Ë»ç, KCNH2
Long QT syndrome, °¡Á·°Ë»ç, KCNQ1
Long QT syndrome, °¡Á·°Ë»ç, SCN5A
Low GGT familial intrahepatic cholestasis, ABCB11, sequencing
Low GGT familial intrahepatic cholestasis, ATP8B1, sequencing
Low GGT familial intrahepatic cholestasis, °¡Á·°Ë»ç, ABCB11
Low GGT familial intrahepatic cholestasis, °¡Á·°Ë»ç, ATP8B1
M
M. tuberculosis, PCR(ºÐ´ç)
M. tuberculosis, PCR(¼¿ï)
Major BCR-ABL PCR
Malaria, PCR(ºÐ´ç)
Malaria, PCR(¼¿ï)
Marfan syndrome, FBN1, sequencing
Marfan syndrome,°¡Á·°Ë»ç, FBN1
MELAS, MT-TL1, sequencing
MERRF, MT-TK, sequencing
Methylmalonic acid Á¤·®(»ýÈÇÐ)
Minor BCR-ABL PCR
MLL, PTD (partial tandem duplication)
MODY3 ,TCF1, sequencing
MODY3 ,°¡Á·°Ë»ç,TCF1
Morquio A(»ýÈÇÐ)
MOTT (NTM), PCR
MOTT(NTM) Identification
MTHFR, 1298A>C
MTHFR, 677C>T
MTHFR, 677C>T & 1298A>C
Mucopolysaccharid (Á¤¼º)°Ë»ç(»ýÈÇÐ)
Mucopolysaccharidosis EP (Áø´Ü°Ë»ç)(»ýÈÇÐ)
Multiple endocrine neoplasia type 2, RET, sequencing
Multiple endocrine neoplasia type 2,°¡Á·°Ë»ç, RET
Multiple epiphyseal dysplasia, COMP, sequencing
Multiple epiphyseal dysplasia, MATN3, sequencing
Multiple epiphyseal dysplasia, °¡Á·°Ë»ç, COMP
Multiple epiphyseal dysplasia, °¡Á·°Ë»ç, MATN3
Mycobacterium Identification, rDNA, sequencing
Mycoplasma pneumoniae, PCR
Myotonic dystrophy (DM1)
N
Neonatal screening test (NST total)(»ýÈÇÐ)
Neonatal screening test (Tandem mass only)(»ýÈÇÐ)
Neuraminidase(»ýÈÇÐ)
Neurofibromatosis 1, NF1, sequencing, del/dup
Neurofibromatosis 1, °¡Á·°Ë»ç, NF1
Neurofibromatosis 2, NF2, sequencing
Neurofibromatosis 2, °¡Á·°Ë»ç, NF2
Noonan syndrome, PTPN11, sequencing
Noonan syndrome, °¡Á·°Ë»ç, PTPN11
Norrie Disease, NDP sequencing
Norrie disease, °¡Á·°Ë»ç, NDP
NPM1 mutation
O
OPMD, PABPN1, GCN repeat expansion
Organic acid(»ýÈÇÐ)
Orotic acid(»ýÈÇÐ)
Osteogenesis Imperfecta (OI), COL1A1/COL1A2, seque
Osteogenesis Imperfecta (OI), °¡Á·°Ë»ç, COL1A1/COL1A2
P
Parkinson disease, PARK2, sequencing, del/dup
Parkinson disease, °¡Á·°Ë»ç, PARK2
Parvovirus B19, PCR(ºÐ´ç)
Parvovirus B19, PCR(¼¿ï)
Parvovirus B19, Á¤·®°Ë»ç, real-time PCR
Pendred syndrome, SLC26A4, sequencing
Pendred syndrome, °¡Á·°Ë»ç, SLC26A4
Phenylalanine/Tyrosin panel(»ýÈÇÐ)
PML-RARA PCR
Pneumocystis jiroveci (P. carinii), PCR
Polycystic kidney disease 2, °¡Á·°Ë»ç,PKD2
Polycystic kidney disease 2, PKD2,sequencing
Prader-Willi/Angelman Syndrome, methylaton PCR
Protein C deficiency, PROC, sequencing
Protein C deficiency, °¡Á·°Ë»ç, PROC
Protein S deficiency, PROS1, sequencing
Protein S deficiency, °¡Á·°Ë»ç, PROS1
Prothrombin G20210A
R
Respiratory virus, PCR panel
Retinoschisis, RS1, sequencing
Retinoschisis, °¡Á·°Ë»ç, RS1
RETT syndrome, MECP2, sequencing
RETT syndrome, °¡Á·°Ë»ç, 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, °¡Á·°Ë»ç, SPAST
T
TB drug(»ýÈÇÐ)
TEL-AML1 PCR
TPMT (1) genotyping, major
Tuberous sclerosis, TSC1/TSC2, Sequencing, Del/dup
Tuberous sclerosis, °¡Á·°Ë»ç, TSC1/TSC2
U
Ureaplasma urealyticum, PCR(ºÐ´ç)
Ureaplasma urealyticum, PCR(¼¿ï)
V
Varicella-zoster virus, PCR(ºÐ´ç)
Varicella-zoster virus, PCR(¼¿ï)
VHL syndrome, VHL, sequencing, del/dup
VHL syndrome, °¡Á·°Ë»ç, VHL
VMAÁ¤·®(»ýÈÇÐ)
von Willebrand disease, VWF, sequencing
von Willebrand disease, °¡Á·°Ë»ç, VWF
W
Wilson disease, ATP7B. major mutations
Wilson disease, ATP7B. sequencing
Wilson disease, °¡Á·°Ë»ç, ATP7B
Wiskott-Aldrich syndrome, WAS, sequencing
Wiskott-Aldrich syndrome, °¡Á·°Ë»ç, WAS
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snuh-dnalab
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