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 bloodTurnover Time:
3 weeksSTATIM
1 weekAR 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 daysPGT preparation, partner
DNA testing of the patient’s partner by karyomapping (SNP array) to determine the parental origin of chromosome segments in the examined embryos and to possibly detect various types of genetic disorders, including monogenic ones.
Material:
Peripheral blood, Buccal swab …Turnover Time:
4 weeksSTATIM
2 weeksPGT preparation, relatives
DNA testing of the patient’s relatives by karyomapping (SNP array) to determine the parental origin of chromosome segments in the examined embryos and to possibly detect various types of genetic disorders, including monogenic ones.
Material:
Peripheral blood, Buccal swab …Turnover Time:
4 weeksSTATIM
2 weeksLeiden mutation (G1691A) in the F5 gene
Testing for thrombophilic Leiden G1691A mutation in the F5 gene by real-time PCR.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 weekG20210A F2 mutation (Prothrombin)
Testing for thrombophilic G20210A mutation in the F2 gene (prothrombin) by real-time PCR.