Cystic fibrosis (CF) (Carrier test for a known mutation)
Analysis ID 205
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Cystic fibrosis (CF) (Carrier test for a known mutation)
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 a carrier testing for the most common mutation (delF508) in the CFTR gene
Analysis indication Cystic fibrosis, carrier testing, infertility
Analysis time Appointed individually
Refund Yes
CGM laboratory name Laboratory for Molecular Genetics