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 daysHereditary spastic paraparesis (SPG4 – SPAST gene, SPG31 – REEP1 gene) – familial AD
Testing for familial AD variants of SPAST gene (SPG4) and REEP1 gene (SPG31) using the NGS method.
Material:
Peripheral blood, Buccal swab …Turnover Time:
6 weeksSTATIM
3 weeksHLA DQA1*05 (rs2097432) testing for anti-TNF biological therapy
Detection of rs2097432 (HLA DQA1*05 allele) by real-time PCR diagnostic kit.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
1 weekHLA DQA1*05 typing (immunogenicity)
Detection of the presence of HLA DQA1*05*01 and HLA DQA1*05*05 alleles by real-time PCR.
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.