Genetic examinations list
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Fragile 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 weekFragile 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
3 daysHLA-C (C1/C2) Genotyping
HLA-C typing at the allelic resolution level is used for the detailed determination of HLA-C gene variants. This gene plays a crucial role in the communication between the mother's immune system and the developing embryo during pregnancy. HLA-C analysis helps identify specific combinations of maternal and fetal genes that may be associated with a higher risk of complications such as recurrent miscarriages, preeclampsia, intrauterine growth restriction (IUGR), or preterm birth. We recommend combining it with the KIR haplotype determination method.
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
2 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, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysHaemochromatosis – H63D, S65C, C282Y mutation in the HFE gene
HFE gene testing by real-time PCR is performed to detect the most common p.C282Y, p.H63D and p.S65C mutations associated with hereditary haemochromatosis.