Genetic examinations list

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Response to hormonal stimulation – Ser680Asn polymorphism in the FSHR gene

Testing for p.Ser680Asn polymorphism in the FSH receptor gene (FSHR) by real-time PCR. This is aimed at investigating the Ser680Asn to Ser680Ser change that is associated with low sensitivity of FSHr to gonadotropins.

Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

3 weeks

STATIM

1 week

Response to hormonal stimulation – Ser680Asn polymorphism in the FSHR FSHR gene

Testing for p.Ser680Asn polymorphism in the FSH receptor gene (FSHR) by real-time PCR. This is aimed at investigating the Ser680Asn to Ser680Ser change that is associated with low sensitivity of FSHr to gonadotropins.

Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

3 weeks

STATIM

3 days

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

RNA analysis of selected mutations

Complementary RNA analysis to the result obtained from testing for congenital predisposition to certain tumour types by CZECANCA cancer panel.

Material:

Peripheral blood RNA

Turnover Time:

3 months

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