Genetic examinations list
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A1298C polymorphism in the MTHFR gene
Testing for A1298C polymorphism in the MTHFR gene by real-time PCR.
Material:
Peripheral blood, Buccal swab …Turnover 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 weeksAR deafness – detection of 35delG GJB2 mutation
Testing for 35delG mutation in the GJB2 gene responsible for AR hereditary, non-syndromic disorder/hearing loss (deafness).
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysHLA 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.