
For children with a clinical diagnosis of cystic fibrosis in whom no mutations were detected using standard common mutation panels, we offer free full sequencing of the CFTR gene. This initiative is conducted in collaboration with Motol University Hospital (Czech Republic) to identify all possible rare mutations and ensure a precise diagnosis.
If a patient is found to have 0 copies of the SMN1 gene, we provide testing to determine the SMN2 gene copy count under special conditions. Determining the number of SMN2 copies is critically important for:
Establishing the clinical prognosis.
Determining the specific treatment strategy and medication eligibility.
Developing long-term patient management plans.
For couples planning a pregnancy, as well as parents of children already diagnosed with a mutation, we provide specialized terms for genetic testing. These studies are designed to assess hereditary risks and support informed family planning.
