Genetic examinations list
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AR 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 …
Peripheral blood, Buccal swab, Isolated DNA from blood, Isolated DNA from chorionic villi, Isolated DNA from amniotic fluid, Isolated DNA from cordocentesis, DNA isolated from the product of conception, DNA isolated from cultured cells
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 …
Peripheral blood, Buccal swab, Isolated DNA from blood
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 …
Peripheral blood, Buccal swab, Isolated DNA from blood, Isolated DNA from chorionic villi, Isolated DNA from amniotic fluid, Isolated DNA from cordocentesis, DNA isolated from the product of conception, DNA isolated from cultured cells
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 …
Peripheral blood, Buccal swab, Isolated DNA from blood
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 …
Peripheral blood, Buccal swab, Isolated DNA from blood