Genetic examinations list
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CarrierTest Custom (IM) for Donors
CarrierTest Custom (IM) for Donors is a crucial genetic screening test designed for gamete donors, analyzing 35 genes associated with the most common serious autosomal recessive and X-linked diseases in our population. This test is essential to minimize the risk of unknowingly passing on a severe genetic condition to the recipients' offspring.
Material:
Peripheral blood, Isolated DNA from blood …Turnover Time:
4 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 weeksClinical 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.
Material:
Chorionic villi, Amniotic fluid …Turnover Time:
6 monthsSTATIM
1 monthCascade testing of the product of conception (by QF-PCR methods) excluding maternal contamination
Cascade aneuploidy testing of aborted foetal tissue using QF-PCR, arrays or karyotyping; excluding maternal contamination.
Material:
Conception product, DNA from the product of conceptionTurnover Time:
3 weeksLeiden mutation (G1691A) in the F5 gene
Testing for thrombophilic Leiden G1691A mutation in the F5 gene by real-time PCR.