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

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

Bekhterev’s disease – HLA-B27 haplotype

The testing focuses on the detection of the HLA-B27 allele by real-time PCR in suspected ankylosing spondylitis (Bekhterev’s disease), reactive arthritis, juvenile rheumatoid arthritis or anterior uveitis.

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, DNA isolated from cultured cells

Turnover Time:

3 weeks

STATIM

3 days