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 bloodTurnover Time:
8 weeksSTATIM
4 weeksKaryotyping of the patient, preconception diagnosis
Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in patients planning a family.
Material:
Peripheral bloodTurnover Time:
8 weeksSTATIM
4 weeksAddition of compatibility testing to the partner’s CarrierTest
When to use this test: We have already performed CarrierTest in the patient, the partner either underwent it too or is now indicated for this test, but they have not yet been tested for their mutual compatibility, which is now required.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
6 weeksSTATIM
3 weeksKaryotyping from AMC
Foetal karyotyping from amniotic fluid to determine chromosomal aberrations of the foetus.
Material:
Cultured cellsTurnover Time:
2 weeksKaryotyping from cordocentesis
Foetal karyotyping from cord blood to determine chromosomal aberrations of the foetus.
Material:
Cultured cellsTurnover Time:
2 weeksA1298C polymorphism in the MTHFR gene
Testing for A1298C polymorphism in the MTHFR gene by real-time PCR.
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