Genetic examinations list
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Stereocilin gene fragmentation analysis
Targeted testing for STRC gene deletion by QF-PCR (Stereocilin gene) responsible for hearing impairment DFNB16.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysDetection of deletions in genes associated with hearing impairment
Testing for STRC, OTOA, CATSPER2 gene duplication/deletion by Multiplex Ligation-dependent Probe Amplification (MLPA), responsible for hearing impairment: DFNB16, DFNB22.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysPredisposition to coeliac disease HLA-DQ2.5 (DQA1*05/DQB1*02), HLA-DQ2.2 (DQA1*02/DQB1*02), HLA-DQ8 (DQA1*03/DQB1*03:02)
Testing for predisposition to coeliac disease by real-time PCR to detect DQ2.5, DQ2.2 and DQ8 haplotypes.
Material:
Peripheral blood, Buccal swab …Turnover Time:
3 weeksSTATIM
3 weeksBekhterev’s disease – HLA-B27 haplotype
The testing focuses on the detection of the HLA-B27 allele by real-time PCR in suspected ankylosing spondylitis (Bekhterev’s disease), reactive arthritis, juvenile rheumatoid arthritis or anterior uveitis.
Material:
Peripheral blood, Buccal swab …Turnover 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 weeksPaternity/relatedness test
Determination of paternity or relatedness by analysis of 16 STR markers.