Genetic examinations list
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Response 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.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
6 weeksSTATIM
3 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 weeksCarrierTest Custom IM
CarrierTest Custom (IM) is a comprehensive genetic test that analyzes over 420 genes associated with the most common serious autosomal recessive and X-linked diseases in our population. It helps healthy couples reduce the risk of unknowingly passing on a genetic condition to their offspring.
Material:
Peripheral blood, Isolated DNA from blood …Turnover Time:
4 weeksKaryotyping in gamete donation candidate
It is used to determine karyotype by classical cytogenetic methods to determine numerical and structural chromosomal aberrations (deviations) of the gamete donor.