Genetic examinations list
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Sex
Predictive testing – a partner carries the gene mutation from CarrierTest (including compatibility of the couple)
CarrierTest is a panel NGS test of selected regions using data from exome libraries.
When to use this test: The partner is already a known carrier of the gene mutation detected in our laboratory by CarrierTest. Therefore, the patient is indicated to be tested for all mutations of the gene, which will also be performed by CarrierTest and the compatibility of both partners determined.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
6 weeksSTATIM
3 weeksPredictive testing – a partner carries the gene mutation from CarrierTest but not tested in GNTlabs
CarrierTest is a panel NGS test of selected regions using data from exome libraries.
When to use this test: The partner is already a known carrier of a mutation in the gene that is included in the CarrierTest, so the patient is indicated to be tested for all mutations in the gene, which will also be performed by CarrierTest, but the partner has not been tested in our laboratory and compatibility will not be tested.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
6 weeksSTATIM
3 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.
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.