Genetic examinations list
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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 – 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.
Material:
Trophectoderm, Amplified DNA from the trophectodermTurnover Time:
4 weeksSTATIM
2 weeksPGT of aneuploidy in DEM
Preimplantation genetic testing of aneuploidy in DEM 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 weeksPRENASCAN
Screening of cell-free foetal DNA (cfDNA) from the blood of a pregnant woman to detect aneuploidy of sex and non-sex chromosomes of the aborted foetus and its gender. From week 10 of the pregnancy.
Material:
Peripheral bloodTurnover Time:
2 weeksSTATIM
1 weekClinical foetal exome (WES) (proband)
NGS analysis of exome (WES) and other clinically relevant regions of the foetal genome; we recommend simultaneously performing exome analysis also in the parents of the foetus – so-called trio analysis.