Genetic examinations list

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Karyotyping of the couple, preconception diagnosis

Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in patients planning a family.

Material:

Peripheral blood

Turnover Time:

8 weeks

STATIM

4 weeks

Karyotyping of the patient, preconception diagnosis

Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in patients planning a family.

Material:

Peripheral blood

Turnover Time:

8 weeks

STATIM

4 weeks

Testing for acquired chromosomal aberrations

The testing is used to determine the frequency of acquired chromosomal aberrations in peripheral blood lymphocytes.

Material:

Peripheral blood

Turnover Time:

2-8 weeks

Detection of aberrations by FISH

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

Material:

Peripheral blood

Turnover Time:

4 weeks

STATIM

1 week

Karyotyping in gamete donation candidate

It is used to determine karyotype by classical cytogenetic methods to determine numerical and structural chromosomal aberrations (deviations) of the gamete donor.

Material:

Peripheral blood

Turnover Time:

8 weeks

STATIM

4 weeks

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