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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. Further information concerning particular tests and the individual diseases can be obtained in the Analysis Index. 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”.

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

ALDOB

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

Real-Time PCR

stool sample in Invitek DNA Stabilizer,

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,

RFLP

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)

DQA1*05

DQB1*02

DQB1*03:02/*03:05

Real-Time PCR

Buccal swab,

EDTA-blood

HFE

HFE His63Asp

HFE Cys282Tyr

Real-Time PCR

Buccal swab,

EDTA-blood

KRAS

Codon 12, 13

Real-Time PCR

stool sample in Invitek DNA Stabilizer,

FFPE-tissue sections

LCT

-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

SLCO1B1

521T>C

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 (in Invitek DNA Stabilizer)

Buccal swab

Saliva