Genetic examinations list
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Cascade 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 …
Chorionic villi, Amniotic fluid, Cord blood, Isolated DNA from chorionic villi, Isolated DNA from amniotic fluid, Isolated DNA from cordocentesis, DNA isolated from cultured cells
Turnover Time:
3 weeksKaryotyping from AMC
Foetal karyotyping from amniotic fluid to determine chromosomal aberrations of the foetus.
Material:
Cultured cellsTurnover Time:
2 weeksKaryotyping from cordocentesis
Foetal karyotyping from cord blood to determine chromosomal aberrations of the foetus.
Material:
Cultured cellsTurnover Time:
2 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 …
Chorionic villi, Amniotic fluid, Cord blood, Isolated DNA from chorionic villi, Isolated DNA from amniotic fluid, Isolated DNA from cordocentesis, Cultured cells, DNA isolated from cultured cells