Genetic examinations list
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Predictive testing of familial mutation
Predictive testing of known familial mutation using Sanger sequencing.
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, Cultured cells
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 …
Peripheral blood, Buccal swab, Isolated DNA from blood, Cultured cells
Turnover Time:
6 weeksSTATIM
3 weeksPredictive mutation testing – SPAST gene (SPG4) and/or REEP1 gene (SPG31)
Testing for familial AD variants of SPAST gene (SPG4) and REEP1 gene (SPG31) using the NGS method.
Material:
Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood, Cultured cells
Turnover Time:
6 weeksSTATIM
3 weeksPredisposition 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 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 …
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