Cystic fibrosis (CF)

Molecular analysis

Cystic fibrosis is a hereditary disease affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure. Thick mucus production results in frequent lung infections. Diminished secretion of pancreatic enzymes is the main cause of poor growth, greasy stools, and deficiency in fat-soluble vitamins. Males can be infertile due to the condition congenital bilateral absence of the vas deferens. Often, symptoms of CF appear in infancy and childhood. Individuals with cystic fibrosis can be diagnosed prior to birth by genetic testing. Newborn screening tests are increasingly common and effective. There is no current cure for CF, and most individuals with cystic fibrosis die young: many in their 20s and 30s from lung failure if lung transplantation is not performed. Cystic fibrosis is one of the most common life-shortening genetic diseases (autosomal recessive disease). It is most common among western European populations; one in twenty-two people of Mediterranean descent are carriers of one gene for CF, making it the most common genetic disease in these populations.

Indications for molecular analysis:

1. Azoospermia
2. Idiopathic pancreatitis
3. 2nd trimester embryos with echogenic bowel