Genetic examinations list
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PGT-M direct embryo sequencing
Testing for the presence of a known mutation in an embryo originating from one parent using (Sanger) sequencing of a specific region. Can only be done in conjunction with the PGT-M karyomapping method.
Material:
Trophectoderm, Amplified DNA from the trophectodermTurnover Time:
4 weeksSTATIM
2 weeksUniparental foetal disomy
Preimplantation genetic testing aimed at demonstrating that for each pair of chromosomes, one chromosome from the father and one from the mother is present in an embryo or foetus sample.
Material:
Trophectoderm, Amplified DNA from the trophectodermTurnover Time:
4 weeksSTATIM
2 weekscfDNA test GENNET
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 weekCascade prenatal testing (by QF-PCR, array) excluding maternal contamination
Cascade aneuploidy testing of material after invasive prenatal examination using QF-PCR and array methods, excluding maternal contamination. This can be supplemented by foetal karyotyping, if necessary.
Material:
Chorionic villi, Amniotic fluid …Turnover Time:
3 weeksQF-PCR aneuploidy testing of chromosomes 13, 18, 21, X and Y
Rapid diagnostic testing of prenatal samples is used to determine aneuploidy of chromosomes 13, 18, 21 and sex chromosomes by QF-PCR.
Material:
Chorionic villi, Amniotic fluid …STATIM
2 daysTesting for maternal contamination
Testing of maternal contamination of material after collection by invasive techniques, using QF-PCR.