Genetic examinations list
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CarrierTest – preconception panel of donor candidate (carriage of recessive mutations)
Testing for the hidden carriage of key mutations in recessive genes that may affect the health status of carriers and their offspring. CarrierTest intended for donors is a panel NGS test of selected regions using data from exome libraries.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
4 weeksSTATIM
2 weeksCystic fibrosis – 50 mutations + Tn variants of IVS8 in the CFTR gene
Testing for the 50 most common CFTR gene mutations and determination of polymorphism in intron 8 (IVS8 Tn/TGn). These 50 mutations represent over 92% of the findings in patients diagnosed with CF in the Czech population using fragmentation analysis.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
3 daysPGT preparation, female patient
DNA testing of the female patient 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, 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 weeksPGT – aneuploidy (PGT-A)
Preimplantation genetic testing of aneuploidy in embryos by NGS method to assess their suitability for transfer and exclude non-viable embryos.