Genetic examinations list

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Karyotyping from AMC

Foetal karyotyping from amniotic fluid to determine chromosomal aberrations of the foetus.

Material:

Cultured cells

Turnover Time:

2 weeks

Karyotyping from cordocentesis

Foetal karyotyping from cord blood to determine chromosomal aberrations of the foetus.

Material:

Cultured cells

Turnover Time:

2 weeks

Clinical 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

Turnover Time:

6 months

STATIM

1 month

Cascade 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 conception

Turnover Time:

3 weeks

cfDNA test GENNET (spontaneous abortion)

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.

Material:

Peripheral blood

Turnover Time:

2 weeks

STATIM

1 week

Testing for maternal contamination of the conception

Testing for maternal contamination of aborted foetal tissue by QF-PCR.

Material:

Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood

Turnover Time:

3 weeks