Improve the quality of life for cystic fibrosis (CF) patients by timely detection of gene variants.
Cystic Fibrosis (CF) is the most prevalent life-limiting autosomal recessive disorder in the Caucasian population. ViennaLab offers population-tailored CF StripAssays® including 46 common Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutations and the polyT variant 5T/7T/9T in intron 8.
Cystic Fibrosis (CF)
- CF patients typically show decreased pulmonary function accompanied by persistent respiratory infections, pancreatic insufficiency, malnutrition and male infertility.
- The disease prevalence is estimated to be 1 in 2,500 to 4,000 live births.
- Clinical manifestations vary in severity depending on the underlying CFTR mutations, ranging from classical CF to the milder forms of CFTR-related disorders.
- Therapies to improve the quality of life of CF patients are available and aim for the prevention of complications and controlling the symptoms.
- In newborn screening, CFTR genotyping enables early diagnosis and minimizes emotional stress for parents.