Genetic examinations list
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Karyotyping in postnatal diagnosis
Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in postnatal diagnosis.
Material:
Peripheral bloodTurnover Time:
8 weeksSTATIM
4 weeksTesting for acquired chromosomal aberrations
Karyotyping to determine the level of chromosome damage in peripheral blood lymphocytes.
Material:
Peripheral bloodTurnover Time:
2-8 weeksDetection of aberrations by FISH
Genetic testing to specify structural chromosomal aberrations or to accurately quantify mosaicism in a sample.
Material:
Peripheral bloodTurnover Time:
4 weeksSTATIM
1 weekFamilial hypercholesterolaemia – FH test
Testing for familial hypercholesterolaemia (FH) using SNP array.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
4 weeksSTATIM
3 weeksPharmacogenetics – PGX test
Testing for congenital predispositions affecting drug metabolism by SNP array.