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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

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

COMT

Val158Met

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

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

LCT

-13910T>C

Real-Time PCR

Buccal swab,

EDTA-blood

MTHFR

677C>T

1298A>C

Real-Time PCR

Buccal swab,

EDTA-blood

PAI-1

-675 5G/4G

Real-Time PCR

Buccal swab,

EDTA-blood

TPMT

238G>C

460G>A

719A>G

Real-Time PCR

Buccal swab,

EDTA-blood

Extraction of genomic DNA of the following source materials

EDTA-blood

Stabilized stool sample (in Invitek DNA Stabilizer)

Buccal swab