Genetic examinations list
Filter
Laboratory focus
Diagnostic group
Methods
Clinical expertise code
Tests covered by the reimbursement
Tests without reimbursement
Sex
Additional evaluation of selected gene from CarrierTest panel for matching
Additional testing for hidden carriage of key mutations in selected recessive genes that may affect the health status of carriers and their offspring. The matching uses the evaluation of data from the already performed CarrierTest NGS testing intended for donors. When to use this test: We use it to match the donor with the partner who carries the mutation in the selected gene to determine the suitability of using this donor and eliminate any reproductive risk.
Material:
Isolated DNA from bloodTurnover Time:
2 daysSTATIM
1 dayPGT 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.
Material:
Trophectoderm, Amplified DNA from the trophectodermTurnover Time:
4 weeksSTATIM
2 weeksPGT – structural chromosome defect (PGT-SR)
Preimplantační genetické testování strukturních chromozomových vad u embryí s cílem identifikovat nebalancovaná a aneuploidní embrya a vyloučit je z transferu. Dle typu a velikosti strukturní chromozomové vady se provádí buď metodou NGS, anebo SNP array.