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PharmGenomics GmbH offers a multitude of genetic analysis as laboratory service. These tests are either based on conventional Real Time PCR or the novel Macroarray-platform. Further information concerning particular tests and the individual diseases can be obtained in the Analysis Index or the GenoChip category. The Investigation order form (physicians/laboratories) as well as the required Informed consent for performing genetic analysis (according to GenDG) can be found using the link “Genetic Service/Downloads”.

GenoChip-Analysis

Parameter

Variation

Detection method

Source material

GenoChip 5-FU

DPYD*2A (1905+1G>A)

DPYD*3 (1898delC)

DPYD*4 (1601G>A)

DPYD*7 (295_298delTCAT)

DPYD*10 (2983G>T)

DPYD*12 (1156G>T)

DPYD*13 (1679T>G)

DPYD M166V (496A>G)

DPYD A551T (1651G>A)

DPYD D949V (2846A>T)

Macroarray

EDTA-blood

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

GenoChip Food

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

GenoChip Onco

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

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

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

EDTA-blood

FFPE-tissue sections

Stabilized stool sample (Stratec stool collection tube)

Buccal swab

Saliva

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