Genetic examinations list
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Predictive 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 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.
Material:
Peripheral bloodTurnover Time:
8 weeksSTATIM
4 weeksCarrierTest – preconception panel of donor candidate (carriage of recessive mutations)
Testing for the hidden carriage of key mutations in recessive genes that may affect the health status of carriers and their offspring. CarrierTest intended for donors is a panel NGS test of selected regions using data from exome libraries.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
4 weeksSTATIM
2 weeksAdditional evaluation of selected gene from CarrierTest panel for matching
Additional testing for hidden carriage of key mutations in selected recessive genes that may affect the health status of carriers and their offspring. The matching uses the evaluation of data from the already performed CarrierTest NGS testing intended for donors. When to use this test: We use it to match the donor with the partner who carries the mutation in the selected gene to determine the suitability of using this donor and eliminate any reproductive risk.
Material:
Isolated DNA from bloodTurnover Time:
2 daysSTATIM
1 dayFragile 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.