GenoChip-Analysis |
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Parameter |
Variation |
Detection method |
Source material |
GenoChip ArteroDAkkS |
ACE Insertion/Deletion AGT 704T>C AGTR1 1166A>C APOE Cys130Arg (former Pos. 112) APOE Cys176Arg (former Pos. 158) CETP 279G>A (Taq1B) CETP 1061A>G Factor II 20210G>A Factor V 1691G>A (Leiden) GNB3 825C>T GP3a 1565T>C NOS3 -786T>C MTHFR 677C>T MTHFR 1298A>C PAI-1 -675 5G/4G SELE 561A>C |
Macroarray |
EDTA-blood |
GenoChip CYP2D6DAkkS |
CYP2D6*3 (2549delA) CYP2D6*4 (1846G>A) CYP2D6*5 (Gene Deletion) CYP2D6*6 (1707delT) CYP2D6*7 (2935A>C) CYP2D6*8 (1758G>T) CYP2D6*9 (2615_2617 del AAG) CYP2D6*10 (100C>T) CYP2D6*11 (883G>C) CYP2D6*17 (1023C>T) CYP2D6*29 (3183G>A) CYP2D6*41 (2988G>A) CYP2D6*xN (Gene Duplication) |
Macroarray |
EDTA-blood |
GenoChip CYP+DAkkS |
CYP2D6*3 (2549delA) CYP2D6*4 (1846G>A) CYP2D6*5 (Gene Deletion) CYP2D6*6 (1707delT) CYP2D6*7 (2935A>C) CYP2D6*8 (1758G>T) CYP2D6*9 (2615_2617 del AAG) CYP2D6*10 (100C>T) CYP2D6*11 (883G>C) CYP2D6*17 (1023C>T) CYP2D6*29 (3183G>A) CYP2D6*41 (2988G>A) CYP2D6*xN (Gene Duplication) CYP1A1*2A (3798T>C) CYP1A2*1C (-3860G>A) CYP1A2*1F (-163C>A) CYP2C9*2 (430C>T) CYP2C9*3 (1075A>C) CYP2C19*2 (681G>A) CYP2C19*3 (636G>A) CYP2C19*17 (-806C>T) CYP3A4*1B (-392A>G) CYP3A4*22 (15389C>T) CYP3A5*2 (27289C>A) CYP3A5*3 (6986A>G) CYP2B6 516G>T CYP2B6 785A>G VKORC1 -1639G>A |
Macroarray |
EDTA-blood |
ADH1B*2 (Arg48His) ALDB Ala149Pro ALDB Ala174Asp ALDH2*2 (Glu487Lys) AOC1 (DAO) 4586G>T G6PD 563C>T (Mediterranean) HLA-DQA1*03 HLA-DQA1*05 HLA-DQB1*02 HLA-DQB1*03:02/*03:05 LCT -13910T>C SI Leu620Pro |
Macroarray |
EDTA-blood |
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BRAF V600E (1799T>A) BRAF V600K (1798G>A and 1799T>A) BRAF V600R (1798G>A and 1799T>G) KRAS G12A (35G>C) KRAS G12C (34G>T) KRAS G12D (35G>A) KRAS G12R (34G>C) KRAS G12S (34G>A) KRAS G12V (35G>T) KRAS G13C (37G>T) KRAS G13D (38G>A) KRAS Q61H (183A>C) KRAS Q61L (182A>T) |
Macroarray |
FFPE-tissue sections |
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GenoChip ToxoDAkkS |
ABCB1 (MDR1) 3435C>T COMT Val158Met CYBA 242C>T CYP1A1*2A (3798T>C) CYP1A2*1C (-3860G>A) CYP1A2*1F (-163C>A) CYP2B6 516G>T CYP2C9*2 (430C>T) CYP2C9*3 (1075A>C) CYP2C19*2 (681G>A) CYP2C19*3 (636G>A) CYP2C19*17 (-806C>T) CYP3A4*1B (-392A>G) CYP3A5*2 (27289C>A) CYP3A5*3 (6986A>G) Factor II 20210G>A Factor V 1691G>A (Leiden) GSTM1 14 kb Deletion GSTP1 Ile105Val GSTP1 Ala114Val GSTT1 50 kb Deletion NAT2 191G>A NAT2 341T>C NAT2 481C>T NAT2 590G>A NAT2 857G>A MTHFR 677C>T SOD2 Val16Ala VKORC1 -1639G>A |
Macroarray |
EDTA-blood |
Individual parameter |
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Parameter |
Variation |
Detection method |
Source material |
ABCB1 (MDR1) |
3435C>T |
Real-Time PCR |
Buccal swab, EDTA-blood |
ADH1B |
*2 (Arg48His) |
RFLP |
Buccal swab, EDTA-blood |
ALDH2 |
*2 (Glu487Lys) |
RFLP |
Buccal swab, EDTA-blood |
ALDB |
Ala149Pro Ala174Asp Asn334Lys |
Real-Time PCR |
Buccal swab, EDTA-blood |
APOE |
Cys130Arg (former Pos. 112) Cys176Arg (former Pos. 158) |
Real-Time PCR |
Buccal swab, EDTA-blood |
BRAF |
Codon 600, 601 |
Real-Time PCR |
FFPE-tissue sections |
CAT |
-262C>T |
Real-Time PCR |
Buccal swab, EDTA-blood |
COMT |
His62His |
Real-Time PCR |
Buccal swab, EDTA-blood |
COMT |
Val158Met |
Real-Time PCR |
Buccal swab, EDTA-blood |
CYP1A1 |
*2A (3798T>C) |
Real-Time PCR |
Buccal swab, EDTA-blood |
CYP1A2 |
*1C (-3860G>A) *1F (-163C>A) |
Real-Time PCR |
Buccal swab, EDTA-blood |
CYP2C19 |
*2 (681G>A) *3 (636G>A) *17 (-806C>T) |
RFLP |
Buccal swab, EDTA-blood |
CYP2C8 |
*2 (11054A>T) *3 (30411A>G) *4 (11041C>G) |
Real-Time PCR |
Buccal swab, EDTA-blood |
CYP2C9 |
*2 (430C>T) *3 (1075A>C) |
RFLP |
Buccal swab, EDTA-blood |
CYP3A4 |
*1B (-392A>G) *2 (15713T>C) *3 (23171T>C) *17 (15615T>C) |
Real-Time PCR |
Buccal swab, EDTA-blood |
CYP3A5 |
*2 (27289C>A) *3 (6986A>G) |
Real-Time PCR |
Buccal swab, EDTA-blood |
DPD |
*2A (IVS14+1) |
Real-Time PCR |
Buccal swab, EDTA-blood |
Factor II |
20210G>A |
Real-Time PCR |
Buccal swab, EDTA-blood |
Factor V |
1691G>A (Leiden) |
Real-Time PCR |
Buccal swab, EDTA-blood |
G6PD |
563C>T (Mediterranean) |
RFLP |
Buccal swab, EDTA-blood |
GSTM1 |
14 kb Deletion |
PCR |
Buccal swab, EDTA-blood |
GSTP1 |
Ile105Val Ala114Val |
RFLP |
Buccal swab, EDTA-blood |
GSTT1 |
50 kb Deletion |
PCR |
Buccal swab, EDTA-blood |
HLA |
B*57:01 |
Lateral-flow-dipstick (LFD) |
Buccal swab |
HLA (celiac disease)DAkkS |
DQA1*05 DQB1*02 DQB1*03:02/*03:05 |
Real-Time PCR |
Buccal swab, EDTA-blood |
HFE |
HFE His63Aso HFE Cys282Tyr |
Real-Time PCR |
Buccal swab, EDTA-blood |
KRAS |
Codon 12, 13 |
Real-Time PCR |
FFPE-tissue sections |
LCTDAkkS |
-13910T>C |
Real-Time PCR |
Buccal swab, EDTA-blood |
MAOA |
Arg297Arg |
Real-Time PCR |
Buccal swab, EDTA-blood |
MTHFR |
677C>T 1298A>C |
Real-Time PCR |
Buccal swab, EDTA-blood |
NOS3 |
Asp298Glu |
Real-Time PCR |
Buccal swab, EDTA-blood |
PAI-1 |
-675 5G/4G |
Real-Time PCR |
Buccal swab, EDTA-blood |
SHMT1 |
1420C>T |
Real-Time PCR |
Buccal swab, EDTA-blood |
SOD3 |
760C>G |
Real-Time PCR |
Buccal swab, EDTA-blood |
TPMT |
238G>C 460G>A 719A>G |
Real-Time PCR |
Buccal swab, EDTA-blood |
UGT1A1 |
*28 (6TTA/7TTA) |
Real-Time PCR |
Buccal swab, EDTA-blood |
VDR |
Taq1 |
Real-Time PCR |
Buccal swab, EDTA-blood |
Extraction of genomic DNA of the following source materials |
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EDTA-blood |
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FFPE-tissue sections |
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Stabilized stool sample (Stratec stool collection tube) |
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Buccal swab |
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Saliva |
DAkkS: CE certified according to ISO 13485