Genetic examinations list

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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

Familial hypercholesterolaemia – FH test

Testing for familial hypercholesterolaemia (FH) using SNP array.

Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

4 weeks

STATIM

3 weeks

Pharmacogenetics – PGX test

Testing for congenital predispositions affecting drug metabolism by SNP array.

Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

4 weeks

STATIM

3 weeks