Genetic examinations list
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Testing for acquired chromosomal aberrations
The testing is used to determine the frequency of acquired chromosomal aberrations in peripheral blood lymphocytes.
Material:
Peripheral bloodTurnover Time:
2-8 weeksResponse 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 bloodTurnover Time:
3 weeksSTATIM
1 weekResponse 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 bloodTurnover Time:
3 weeksSTATIM
3 daysTesting for maternal contamination
Testing of maternal contamination of material after collection by invasive techniques, using QF-PCR.
Material:
Peripheral blood, Isolated DNA from bloodSTATIM
2 daysTesting for maternal contamination of the conception
Testing for maternal contamination of aborted foetal tissue by QF-PCR.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksRNA analysis of selected mutations
Complementary RNA analysis to the result obtained from testing for congenital predisposition to certain tumour types by CZECANCA cancer panel.