Genetic examinations list

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Tests without reimbursement

CarrierTest – preconception panel of donor candidate (carriage of recessive mutations)

Testing for the hidden carriage of key mutations in recessive genes that may affect the health status of carriers and their offspring. CarrierTest intended for donors is a panel NGS test of selected regions using data from exome libraries.

Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

4 weeks

STATIM

2 weeks

Cystic fibrosis – 50 mutations + Tn variants of IVS8 in the CFTR gene

Testing for the 50 most common CFTR gene mutations and determination of polymorphism in intron 8 (IVS8 Tn/TGn). These 50 mutations represent over 92% of the findings in patients diagnosed with CF in the Czech population using fragmentation analysis.

Material:

Peripheral blood, Isolated DNA from blood

Turnover Time:

3 weeks

STATIM

3 days

Non-invasive paternity test (upon agreement) from week 11 of the pregnancy

A non-invasive paternity test is performed upon agreement with the laboratory from week 11 of the pregnancy. The test is carried out from the blood of the mother, which contains the free DNA of the foetus, and the blood of the putative father. The test can only be carried out in singleton pregnancies (it is not possible to test the paternity of twins).

Material:

Peripheral blood, Peripheral blood