Cystic Fibrosis (CF) (36 mutations)
Analysis ID 204
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Cystic Fibrosis (CF) (36 mutations)
OMIM 219700
Clinical information Symptoms of cystic fibrosis include exocrine dysfunction of the pancreas, intestinal glands (manifesting as meconium ileus in neonates), bronchial glands (chronic bronchopulmonary infections with emphysema), apocrine glands, and bile excretion (biliary cirrhosis). Infertility may occur in males and females.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes CFTR
Analysis description Analysis consists of testing for 36 common mutations in the CFTR gene
Analysis indication Symptoms of cystic fibrosis
Analysis time Appointed individually
Refund No
CGM laboratory name Laboratory for Molecular Genetics