Genetic examinations list

Filter by name:

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

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

RNA analysis of selected mutations

Complementary RNA analysis to the result obtained from testing for congenital predisposition to certain tumour types by CZECANCA cancer panel.

Material:

Peripheral blood RNA

Turnover Time:

3 months