Genetic examinations list

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PGT – aneuploidy (PGT-A)

Preimplantation genetic testing of aneuploidy in 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

PGT – structural chromosome defect (PGT-SR)

Preimplantační genetické testování strukturních chromozomových vad u embryí s cílem identifikovat nebalancovaná a aneuploidní embrya a vyloučit je z transferu. Dle typu a velikosti strukturní chromozomové vady se provádí buď metodou NGS, anebo SNP array.

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