Vademecum Analisi (PDF) - Genoma

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Analisi OMIM Gene Campione tipo Risposta
Note tecniche
Mutazioni investigate
CYP2C19 124020 *1*2*3*4*5*6*7*8*9*10*11*2B
CYP2D6 124030 *1*2*3*3B*4*5*6*7*8*9*10*11*12*14*17*20*21*24*38*44*XN
CYP2E1 124040 *1C*1D*2*5*6*
CYP2J2 601258 *2*3*4*5*6*7
CYP3A4 124010 *1B*2*3*4*5*6*7*8*9*10*11*12*13*14*15*16*17*18*19
CYP3A5 605325 *2*3C*4*5*6*7*8*9*10
CYP3A7 605340 *1C*2
CYP4B1 124075 *2
EPOXIRHYDROXYLASES (EPHX) S-EDTA 10-15 gg
EPHX1 132810 n.a.*3*4
EPHX2 132811 n.a.
GLUTATHIONE S-TRANSFERASES (GST) S-EDTA 10-15 gg
GSTM1 138350 *0
GSTT1 600436 *A*B*0
GSTP1 134660 *A*B*C
SULFONYL TRANSFERASES (SULT) S-EDTA 10-15 gg
SULT1A1 171150 *2*3
SULT1A2 601292 *2*3
N-ACETYLTRANSFERASES TYPE 2 (NAT2) S-EDTA 10-15 gg
NAT2 243400 *4*5*6*7*10*11B*12*13*14*17*18*19
THIOPURINE METHYLTRANSFERASES S-EDTA 10-15 gg
TPMT 187680 *2*3A*B*3C
URIDINE DIPHOSPHATE-GLUCORONYLTRANSFERASES S-EDTA 10-15 gg
UGT1A1 191740 *1 repeat 6/*28 repeat 7/*36 reapeat 5/*37repeat 8
UGT1A6 606431 *1*2
UGT1A7 606432 *1*2*3*4
UGT1A9 606434
UGT2B4 600067 *2
UGT2B15 600069 *2
P-GLYCOPROTEIN MDR1 171050 S-EDTA 10-15 gg
Farmacogenetica
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