Genetic examinations list
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Detection of aberrations by FISH
Genetic testing to specify structural chromosomal aberrations or to accurately quantify mosaicism in a sample.
Material:
Peripheral bloodTurnover Time:
4 weeksSTATIM
1 weekResponse 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 weekDetection of aberrations by FISH
Genetic testing to specify structural chromosomal aberrations or to accurately quantify mosaicism in a sample.
Material:
Chorionic villi, Amniotic fluid …Turnover Time:
4 weeksSTATIM
1 weekRNA 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 RNATurnover Time:
3 monthsDetection of aberrations by FISH
Genetic testing to specify structural chromosomal aberrations or to accurately quantify mosaicism in a sample.
Material:
Peripheral bloodTurnover Time:
4 weeksSTATIM
1 weekDetection of deletions in genes associated with hearing impairment
Testing for STRC, OTOA, CATSPER2 gene duplication/deletion by Multiplex Ligation-dependent Probe Amplification (MLPA), responsible for hearing impairment: DFNB16, DFNB22.