Genetic examinations list
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Karyotyping 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.
Material:
Peripheral bloodTurnover Time:
2-8 weeksResponse to hormonal stimulation – Ser680Asn polymorphism in the FSHR gene
Testing for p.Ser680Asn polymorphism in the FSH receptor gene (FSHR) by real-time PCR. This is aimed at investigating the Ser680Asn to Ser680Ser change that is associated with low sensitivity of FSHr to gonadotropins.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
1 weekPredictive testing of known familial gene mutation from CarrierTest
Testing for carriage of familial pathogenic mutations detected during testing in the CarrierTest panel NGS test.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
1 weekPredictive testing – a partner carries the gene mutation from CarrierTest but not tested in GNTlabs
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 a mutation in the gene that is included in the CarrierTest, so the patient is indicated to be tested for all mutations in the gene, which will also be performed by CarrierTest, but the partner has not been tested in our laboratory and compatibility will not be tested.