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

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

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

Predictive testing of familial mutation

Predictive testing of known familial mutation using Sanger sequencing.

Material:

Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood, Isolated DNA from chorionic villi, Isolated DNA from amniotic fluid, Isolated DNA from cordocentesis, DNA isolated from the product of conception, Cultured cells

Turnover Time:

3 weeks

STATIM

3 days