Genetic examinations list
Filter
Laboratory focus
Diagnostic group
Methods
Clinical expertise code
Tests covered by the reimbursement
Tests without reimbursement
Sex
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 bloodDNA sperm fragmentation test (Halosperm)
Determination of the percentage of sperm with fragmented DNA using the Halosperm kit.
Material:
EjaculateTurnover Time:
1 dayFamilial hypercholesterolaemia – FH test
Testing for familial hypercholesterolaemia (FH) using SNP array.
Material:
Peripheral blood, Isolated DNA from bloodPharmacogenetics – PGX test
Testing for congenital predispositions affecting drug metabolism by SNP array.
Material:
Peripheral blood, Isolated DNA from bloodCystic 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, Buccal swab …Turnover Time:
3 weeksSTATIM
3 daysSpinal muscular atrophy – determination of copy number of exon 7 and 8 in the SMN1 gene
Examination of SMN1 and SMN2 genes associated with spinal muscular atrophy (SMA) by MLPA method. This concerns an autosomal recessive disease that is most often associated with homozygous deletion of exon 7 in the SMN1 gene (almost 95% of all patients with SMA).