Genetic examinations list

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C677T 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 weeks

STATIM

3 days

A1298C 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 weeks

STATIM

3 days

4G/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

Turnover Time:

3 weeks

STATIM

3 days

ANXA5 gene M2 haplotype

Determination of risk M2 haplotype in the ANXA5 gene by diagnostics of four variants in the regulatory region of the ANXA5gene (rs112782763, rs28717001, rs28651243 and rs113588187) 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 weeks

STATIM

3 days

Cancer panel CZECANCA

Testing for congenital predisposition to certain tumour types is performed by examination of exome data (WES) by CZECANCA virtual cancer panel of genes.

Material:

Peripheral blood, Buccal swab …
Peripheral blood, Buccal swab, Isolated DNA from blood

Turnover Time:

6 weeks

STATIM

3 weeks

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 weeks

STATIM

3 days