Analysis index

2 ml EDTA-blood, declaration of consent

Confirmation of a conspicuous sweat test, evaluation of carrier status before a planned pregnancy (genetic counselling required)

Cystic fibrosis (Mucoviscidosis) is an autosomal recessive hereditary disorder of the chloride channel on the epithelial cell surface. In the CFTR gene (Cystic fibrosis transmembrane regulator), over 1900 mutations are known. With 70 % point mutation delta F0508 is the most common mutation in the Central European population and responsible for cystic fibrosis (CF). The clinical course is variable and covers pulmonary and gastrointestinal symptoms (coughing, infections, respiratory insufficiency, cor pulmonale, cholestasis, cholestatic liver cirrhosis, exocrine pancreas insufficiency with malabsorption, later endocrine pancreas insufficiency with diabetes mellitus). In male patients, there is also sterility due to ductus deferens aplasia in 98 % of cases.

Please also refer to section “Cystic fibrosis” (Indications directory)

MVZ Dr. Eberhard & Partner Dortmund