Genetic examinations list
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CarrierTest – 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 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 weeksFragile X syndrome – detection of CGG repeat expansion in the FMR1 gene
The testing is performed to determine the presence and extent of CGG triplet expansion in the IT15 region of the FMR1 gene.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
1 weekCystic fibrosis – 50 mutations + Tn variants of IVS8 in the CFTR gene
Testing for the 50 most common CFTR gene mutations and determination of polymorphism in intron 8 (IVS8 Tn/TGn). These 50 mutations represent over 92% of the findings in patients diagnosed with CF in the Czech population using fragmentation analysis.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
1 weekMicrodeletion of Y chromosome – AZFa, AZFb, AZFc including SRY
Testing for microdeletions in the AZF (azoospermia factors) region of the Y chromosome (AZFa, AZFb, AZFc) by fragmentation analysis.