Genetic examinations list

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Detection of aberrations by FISH

Genetic testing to specify structural chromosomal aberrations or to accurately quantify mosaicism in a sample.

Material:

Chorionic villi, Amniotic fluid …
Chorionic villi, Amniotic fluid, Cord blood, Cultured cells

Turnover Time:

4 weeks

STATIM

1 week

Uniparental foetal disomy: invasive diagnosis

Genetic testing aimed at demonstrating that for each pair of chromosomes, one chromosome originating from the mother and one from the father is present in the foetus.

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:

4 weeks

STATIM

2 weeks

Foetal karyotyping from CVS

Foetal karyotyping from chorionic villi to determine chromosomal aberrations of the foetus.

Material:

Cultured cells

Turnover Time:

2 weeks

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

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