Genetic examinations list
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Predictive 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 weekPGT-M direct embryo sequencing
Testing for the presence of a known mutation in an embryo originating from one parent using (Sanger) sequencing of a specific region. Can only be done in conjunction with the PGT-M karyomapping method.
Material:
Trophectoderm, Amplified DNA from the trophectodermTurnover Time:
4 weeksSTATIM
2 weeksPredictive testing of familial mutation
Predictive testing of known familial mutation using Sanger sequencing.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysKIR (Killer-cell immunoglobulin-like receptor) haplotype evaluation
The KIR haplotype (A/B) determination method allows for the identification of the mother's genetic makeup in the region of KIR receptors. These receptors play a crucial role in the communication between the mother's immune system and the embryo during pregnancy, where they recognize HLA-C molecules on the embryo's surface. Analysis of the KIR haplotype can help reveal specific maternal genotypes that, in combination with the fetal HLA-C, may be associated with a higher risk of pregnancy complications.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
2 weeksPaternity/relatedness test
Determination of paternity or relatedness by analysis of 16 STR markers.