Genetic examinations list
Filter
Laboratory focus
Diagnostic group
Methods
Clinical expertise code
Tests covered by the reimbursement
Tests without reimbursement
Sex
PRENASCAN
Screening of cell-free foetal DNA (cfDNA) from the blood of a pregnant woman to detect aneuploidy of sex and non-sex chromosomes of the aborted foetus and its gender. From week 10 of the pregnancy.
Material:
Peripheral bloodTurnover Time:
2 weeksSTATIM
1 weekUniparental foetal disomy: invasive diagnosis
Genetic testing aimed at demonstrating that for each pair of chromosomes, one chromosome originating from the mother and one from the father is present in the foetus.
Material:
Chorionic villi, Amniotic fluid …
Chorionic villi, Amniotic fluid, Cord blood, Isolated DNA from chorionic villi, Isolated DNA from amniotic fluid, Isolated DNA from cordocentesis, Cultured cells, DNA isolated from cultured cells
Turnover Time:
4 weeksSTATIM
2 weeksPredictive 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 daysPredictive 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