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.

Citations:

1. Abdul-Qadir A., et al., 2021. Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients. The Egyptian journal of medical human genetics vol. 22,1: 45. doi:10.1186/s43042-021-00164-x.