Cystic fibrosis
Genetic diagnosis of cystic fibrosis and precision medicine
Cystic fibrosis is an inherited genetic disease with autosomal recessive transmission, caused by variants of the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene. Alterations in this gene impair the function of the CFTR protein, which is involved in the transport of salts and water across the membranes of epithelial cells. The disease mainly affects the respiratory and digestive systems.
The production of thick, sticky secretions can impair the function of various organs and give rise to clinical manifestations of varying severity.
Explore solutions for the genetic diagnosis of cystic fibrosis
Browse the products available for the analysis of the CFTR gene and find the solutions best suited to your laboratory’s needs.
The role of genetic analysis in cystic fibrosis
Variants of the CFTR gene can be associated with different clinical pictures. Manifestations of the disease include recurrent respiratory infections, digestive and growth difficulties and, in some cases, male infertility related to congenital absence of the vas deferens. Numerous variants of the CFTR gene have been identified: some are associated with cystic fibrosis, while for others the clinical significance may be less clear.
For this reason, identifying the variants present in the patient is important to support the diagnostic assessment and specialist evaluation.
Molecular analysis can provide useful information to:
- support diagnosis in individuals with clinical suspicion;
- identify healthy carriers;
- support family genetic counseling;
- contribute to preconception and prenatal assessment in indicated cases;
- characterize the patient’s genetic profile;
- evaluate, together with the other clinical criteria, possible access to CFTR protein modulator therapies.
Genetic diagnosis is integrated with the other investigations included in the clinical pathway. Knowing the patient’s variants helps specialists interpret the disease and plan its monitoring.
Genetic profile and precision medicine
Therapeutic advances have made accurate genetic characterization even more important. Some CFTR modulator therapies are in fact indicated in relation to the variants present in the patient; eligibility for treatment is assessed by the specialist according to the drug’s indications and the clinical picture.
Solutions for the genetic diagnosis of cystic fibrosis
Explore the Nuclear Laser Medicine products dedicated to the analysis of the CFTR gene. For information on the variants investigated by the individual tests and on the solutions best suited to your laboratory, contact us.