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

PGT preparation, female patient

DNA testing of the female patient by karyomapping (SNP array) to determine the parental origin of chromosome segments in the examined embryos and to possibly detect various types of genetic disorders, including monogenic ones.

Material:

Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood

Turnover Time:

4 weeks

STATIM

2 weeks

PGT preparation, partner

DNA testing of the patient’s partner by karyomapping (SNP array) to determine the parental origin of chromosome segments in the examined embryos and to possibly detect various types of genetic disorders, including monogenic ones.

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

Turnover Time:

4 weeks

STATIM

2 weeks