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

Uniparental foetal disomy

Preimplantation genetic testing aimed at demonstrating that for each pair of chromosomes, one chromosome from the father and one from the mother is present in an embryo or foetus sample.

Material:

Trophectoderm, Amplified DNA from the trophectoderm

Turnover Time:

4 weeks

STATIM

2 weeks

Uniparental foetal disomy: invasive diagnosis

Genetic testing aimed at demonstrating that for each pair of chromosomes, one chromosome originating from the mother and one from the father is present in the foetus.

Material:

Chorionic villi, Amniotic fluid …
Chorionic villi, Amniotic fluid, Cord blood, Isolated DNA from chorionic villi, Isolated DNA from amniotic fluid, Isolated DNA from cordocentesis, Cultured cells, DNA isolated from cultured cells

Turnover Time:

4 weeks

STATIM

2 weeks

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

Uniparental disomy

Material:

Peripheral blood, Isolated DNA from blood