Genetic examinations list

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G20210A F2 mutation (Prothrombin)

Testing for thrombophilic G20210A mutation in the F2 gene (prothrombin) by real-time PCR.

Material:

Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood, Isolated DNA from chorionic villi, Isolated DNA from amniotic fluid, Isolated DNA from cordocentesis, DNA isolated from the product of conception

Turnover Time:

3 weeks

STATIM

3 week

Uniparental disomy

Material:

Peripheral blood, Isolated DNA from blood

Genetically-Caused Lactose Intolerance

The test examines two variants, c.-13910T/C (rs4988235) and c.-22018A/G (rs182549), in the regulatory region of the LCT gene, which codes for the lactase enzyme that is essential for digesting milk sugar (lactose). Adults with the CC/GG genotype often experience digestive problems with milk sugar—this is known as lactose intolerance.

Material:

Peripheral blood, Isolated DNA from blood …
Peripheral blood, Isolated DNA from blood, Buccal swab

Turnover Time:

4 weeks

GERT: GENNET Endometrium Receptivity test

The Gennet Endometrium Receptivity Test (GERT) is a diagnostic test designed to determine the receptivity of the inner lining of the uterus (endometrium). The test requires a biopsy sample of endometrial tissue and uses RNAseq analysis.

Material:

Endometrial biopsy

Turnover Time:

4 weeks

STATIM

2 weeks