Genetic examinations list

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Cascade testing of the product of conception (by QF-PCR methods) excluding maternal contamination

Cascade aneuploidy testing of aborted foetal tissue using QF-PCR, arrays or karyotyping; excluding maternal contamination.

Material:

Conception product, DNA from the product of conception

Turnover Time:

3 weeks

Karyotyping in postnatal diagnosis

Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in postnatal diagnosis.

Material:

Peripheral blood

Turnover Time:

8 weeks

STATIM

4 weeks

Testing for acquired chromosomal aberrations

Karyotyping to determine the level of chromosome damage 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

Uniparental disomy

Material:

Peripheral blood, Isolated DNA from blood

DNA sperm fragmentation test (Halosperm)

Determination of the percentage of sperm with fragmented DNA using the Halosperm kit.

Material:

Ejaculate

Turnover Time:

1 day