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.
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.