Genetic examinations list

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PGT-M direct embryo sequencing

Testing for the presence of a known mutation in an embryo originating from one parent using (Sanger) sequencing of a specific region. Can only be done in conjunction with the PGT-M karyomapping method.

Material:

Trophectoderm, Amplified DNA from the trophectoderm

Turnover Time:

4 weeks

STATIM

2 weeks

Uniparental foetal disomy

Preimplantation genetic testing aimed at demonstrating that for each pair of chromosomes, one chromosome from the father and one from the mother is present in an embryo or foetus sample.

Material:

Trophectoderm, Amplified DNA from the trophectoderm

Turnover Time:

4 weeks

STATIM

2 weeks

PGT of aneuploidy in DEM

Preimplantation genetic testing of aneuploidy in DEM embryos by NGS method to assess their suitability for transfer and exclude non-viable embryos.

Material:

Trophectoderm, Amplified DNA from the trophectoderm

Turnover Time:

4 weeks

STATIM

2 weeks

PRENASCAN

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 blood

Turnover Time:

2 weeks

STATIM

1 week

cfDNA 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 blood

Turnover Time:

2 weeks

STATIM

1 week

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 weeks