Genetic examinations list

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Laboratory focus

Clinical expertise code

Tests covered by the reimbursement

Tests without reimbursement

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

Response to hormonal stimulation – Ser680Asn polymorphism in the FSHR gene

Testing for p.Ser680Asn polymorphism in the FSH receptor gene (FSHR) by real-time PCR. This is aimed at investigating the Ser680Asn to Ser680Ser change that is associated with low sensitivity of FSHr to gonadotropins.

Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

3 weeks

STATIM

1 week