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代謝、止血、神経系、心筋、薬物代謝、がんに関連する110の遺伝子の変異解析を至適化

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代謝酵素

Assay Assay Type Mutation
CETP CHOLESTERYL ESTER TRANSFER PROTEIN, PLASMA Whole gene analysis N/A
LIPC LIPASE, HEPATIC Whole gene analysis N/A
LPL LIPOPROTEIN LIPASE Whole gene analysis N/A
LCAT LECITHIN:CHOLESTEROL ACYLTRANSFERASE Whole gene analysis N/A
SCARB1 SCAVENGER RECEPTOR CLASS B, MEMBER 1 Whole gene analysis N/A
ApoF APOLIPOPROTEIN F Whole gene analysis N/A
MCAD ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN LunaProbe Genotyping 985 A>G
MCAD ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN LunaProbe Genotyping 199 T>C
MCAD ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN Whole gene analysis N/A
OTC ORNITHINE CARBAMOYLTRANSFERASE Whole gene analysis N/A
NAGS N-ACETYLGLUTAMATE SYNTHASE Whole gene analysis N/A
GALT GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE Whole gene analysis N/A
MTHFR 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE LunaProbe Genotyping A222V （677C>T）
MTHFR 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE LunaProbe Genotyping E429A （1298A>C）
HFE HEMOCHROMATOSIS LunaProbe Genotyping H63D （187C>G）
HFE HEMOCHROMATOSIS LunaProbe Genotyping C282Y （845G>A）

止血因子

Assay Assay Type Mutation
A1AT ALPHA-1-ANTITRYPSIN PROTEASE INHIBITOR Whole gene analysis N/A
Factor V COAGULATION FACTOR V LunaProbe Genotyping R506Q （1691G>A）
Prothrombin COAGULATION FACTOR II LunaProbe Genotyping 20210 G>A
CFHx9 COMPLEMENT FACTOR H Scanning T/C Y402H, T1277C poly

神経系

Assay Assay Type Mutation
SOD1x1 SUPEROXIDE DISMUTASE 1 Inquire N/A
SMNx7 SURVIVAL OF MOTOR NEURON 1 （mouse） Inquire N/A
SOX1x1 SRY-BOX 1 （3 fragments） Scanning N/A
SPG4x9 SPASTIN （microtubule disassembly） Scanning N/A
HTR2A SEROTONIN RECEPTOR Scanning x1 102 T>C
BMPR2 BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE II Whole gene analysis N/A

心筋タンパク質

Assay Assay Type Mutation
MYH7x3 Scanning N/A
MYH7x12 MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA Scanning N/A
MYBPC3x3 MYOSIN-BINDING PROTEIN C, CARDIAC Scanning N/A
MYBPC3x4 MYOSIN-BINDING PROTEIN C, CARDIAC Scanning N/A
MYBPC3x6 MYOSIN-BINDING PROTEIN C, CARDIAC Scanning N/A
TNNT2x3,4 TROPONIN T2, CARDIAC （thin filaments, single fragment） Scanning N/A
TNNI3x7 TROPONIN I, CARDIAC （thin filaments） Scanning N/A
TNNI3x8 TROPONIN I, CARDIAC （thin filaments） Scanning N/A

薬物代謝酵素

Assay Assay Type Mutation
VKORC1 Vitamin K epoxide reductase complex, subunit 1 LunaProbe Genotyping 1173 C>T
CYP1B1x2 Cytochrome P450, family 1, subfamily B, polypeptide 1 Scanning N/A
CYP1B1x3 Cytochrome P450, family 1, subfamily B, polypeptide 1 Scanning N/A

その他　分析できる遺伝子の一例

がん関連 AXL、BRIP、BRAF、EGFR、ERBB、FGF3R、Irf4、JAK1、JAK2
KIT、MSH2、MLH1、MET、PDGFRA、PDPK1、PIK3Ca、ROS1
RET、K-Ras、TP53
Solute Carrie Family SLC22A1、LSC22A2、SLCO1B1、SLCO2B1、SLC22A5
グルタチオンS-ランスフェラーゼ GSTA2、MYBPC、TNNT2、TNN13
フラビン含有モノキシゲナーゼ FMO3

製品詳細

製品詳細