Genetic examinations list
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Karyotyping in gamete donation candidate
It is used to determine karyotype by classical cytogenetic methods to determine numerical and structural chromosomal aberrations (deviations) of the gamete donor.
Material:
Peripheral bloodTurnover Time:
8 weeksSTATIM
4 weeksAR deafness – detection of 35delG GJB2 mutation
Testing for 35delG mutation in the GJB2 gene responsible for AR hereditary, non-syndromic disorder/hearing loss (deafness).
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
3 daysResponse 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.