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 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 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 weeksDetermination of TPMT mutation status, allele *1, *2, *3A, *3B, *3C (mutations c.238G>C, c.460G>A and c.719A>G)
TPMT gene testing is performed by PCR and reverse hybridization strip assay to detect *1, *2, *3A, *3B, *3C alleles (c.238G>C, c.460G>A and c.719A>G mutations), which are responsible for the reduced activity of this enzyme catalyzing components of thiopurine drugs used in cancer therapy.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysDetermination of NUDT15 gene mutation status, allele *1, *2, *3, *4, *5 (mutation c. 415C>T, c. 416 G>A and c.52G>A)
NUDT15 gene testing by real-time PCR is performed to detect NUDT15*1, NUDT15*2, NUDT15*3, NUDT15*4, and NUDT15*5 alleles (c. 415C>T, c. 416G>A, and c.52G>A), which are involved in the metabolism of thiopurine drugs.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
1 weekHLA-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.