In cooperation with the genetic laboratory, we offer two variants of preconception testing. Both include karyotype testing and differ in the number of monogenic diseases tested: Basic preconception test: detection of mutation carriers for the 3 most common autosomal recessive monogenic diseases in the Czech population or Central Europe.
Testing for:
- Cystic fibrosis,
- spinal muscular atrophy
- and nonsyndromic hearing loss (due to mutation of the GJB2 gene).
The testing is covered by Czech health insurance.
Extended preconception test - 'Carrier screening': Carrier screening for 116 autosomal recessively inherited and 14 X-linked monogenic diseases. This test is partially covered by health insurance with a co-payment for patients in the Czech insurance system. This testing targets the most frequently occurring recessive diseases in all world ethnicities, e.g.:
cystic fibrosis, spinal muscular atrophy, nonsyndromic hearing loss (with GJB2 gene mutation), α and β thallasemia, sickle cell anaemia, phenylketonuria, albinism type 1 and others.