Genetic examinations list
Filter
Laboratory focus
Diagnostic group
Methods
Clinical expertise code
Tests covered by the reimbursement
Tests without reimbursement
Sex
Spinal 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).
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
3 daysAR deafness – detection of 35delG GJB2 mutation
Testing for 35delG mutation in the GJB2 gene responsible for AR hereditary, non-syndromic disorder/hearing loss (deafness).
Material:
Peripheral blood, Isolated DNA from bloodTurnover Time:
3 weeksSTATIM
3 daysCarrierTest Custom (IM) for Donors
CarrierTest Custom (IM) for Donors is a crucial genetic screening test designed for gamete donors, analyzing 35 genes associated with the most common serious autosomal recessive and X-linked diseases in our population. This test is essential to minimize the risk of unknowingly passing on a severe genetic condition to the recipients' offspring.
Material:
Peripheral blood, Isolated DNA from blood …Turnover Time:
4 weeksDNA isolation and banking
DNA isolation and its storage in the laboratory (banking).
Material:
Peripheral blood, Buccal swab …Turnover Time:
48 hoursDNA disposal after testing
Disposal of isolated DNA after its testing.
Material:
Isolated DNA from blood, DNA from chorionic villi …Turnover Time:
3 monthsTransfer of DNA aliquots after isolation for genetic testing outside GENNET
Transfer of DNA aliquots after isolation for genetic testing outside GNTlabs.