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 weeksCarrierTest – preconception panel with partner compatibility
CarrierTest is a panel NGS test of selected regions with an impact on parental fertility and offspring health, using data from exome libraries. It determines the hidden carriage of key mutations in recessive genes that cause more than 60 genetic disorders and conditions.
When to order this test: Preconception test for couples – indication of CarrierTest for both partners, including mutual compatibility (method for compatibility is sent automatically with this test). If one of the partners already underwent CarrierTest at our workplace and now has a new partner, we will order this test for the new partner (if he/she did not undergo CarrierTest at our workplace) and order the “Addition of compatibility testing to the partner’s CarrierTest” method for the patient. If both partners underwent CarrierTest at our workplace, we choose only the “Addition of compatibility testing to the partner’s CarrierTest” for both partners.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
6 weeksSTATIM
3 weeksPredictive testing – a partner carries the gene mutation from CarrierTest (including compatibility of the couple)
CarrierTest is a panel NGS test of selected regions using data from exome libraries.
When to use this test: The partner is already a known carrier of the gene mutation detected in our laboratory by CarrierTest. Therefore, the patient is indicated to be tested for all mutations of the gene, which will also be performed by CarrierTest and the compatibility of both partners determined.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
6 weeksSTATIM
3 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 weeksCarrierTest – preconception panel
CarrierTest is a panel NGS test of selected regions using data from exome libraries. It determines the hidden carriage of key mutations in recessive genes that cause more than 60 genetic disorders and conditions with an impact on parental fertility and offspring health.
Preconception genetic testing of one person without a partner (single).
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
6 weeksSTATIM
3 weeksTesting for acquired chromosomal aberrations
The testing is used to determine the frequency of acquired chromosomal aberrations in peripheral blood lymphocytes.