Genetic examinations list
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Sex
cfDNA test GENNET (spontaneous abortion)
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.
Material:
Peripheral bloodTurnover Time:
2 weeksSTATIM
1 weekLeiden mutation (G1691A) in the F5 gene
Testing for thrombophilic Leiden G1691A mutation in the F5 gene by real-time PCR.
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
Turnover Time:
3 weeksSTATIM
3 weekG20210A F2 mutation (Prothrombin)
Testing for thrombophilic G20210A mutation in the F2 gene (prothrombin) by real-time PCR.
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
Turnover Time:
3 weeksSTATIM
3 weekC677T polymorphism in the MTHFR gene
Testing for C677T polymorphism in the MTHFR gene by real-time PCR.
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
Turnover Time:
3 weeksSTATIM
3 daysA1298C polymorphism in the MTHFR gene
Testing for A1298C polymorphism in the MTHFR gene by real-time PCR.
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
Turnover Time:
3 weeksSTATIM
3 days4G/5G polymorphism in the PAI‑1 gene
Testing for 4G/5G polymorphism in the PAI-1 gene by real-time PCR.
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