What is Cystic Fibrosis?

Cystic Fibrosis is an autosomal recessive disorder caused by mutations in the CFTR gene. Heterozygous carriers (those who have inherited only one copy of the altered gene) are asymptomatic. Two altered genes must be present for CF to appear.

Cystic fibrosis is a disease of the mucus glands that affects many of the body's organs. This disorder causes progressive damage to the respiratory system and chronic digestive system problems.

Over time, mucus buildup and infections lead to permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. Some babies with cystic fibrosis have meconium ileus, a blockage of the intestine that occurs shortly after birth. Infertility is common in men with cystic fibrosis.

About 20 000 Europeans have cystic fibrosis and each year about 2500 babies are born with CF.

Some articles related to Cystic Fibrosis testing

Prenatal screening for cystic fibrosis: past, present and future
Richards C S, Grody W W, Expert Rev. Mol. Diagn., 2004, 4(1), 49-62 (PDF, 156KB)
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
Watson M S et al., Genetics in Medicine, 2004, 6(5) (PDF, 167KB)
Current challenges in Cystic Fibrosis screening
Lyon E, Miller C, Arch Pathol Lab Med, 2003, Vol 127 (PDF, 160KB)
Genetics of Cystic Fibrosis
Gallati S, Seminars in respiratory and critical care medicine, 2003, 24(6) (PDF, 190KB)
Standards and guidelines for CFTR mutation testing
Richards C S et al., Genetics in Medicine, 2002, 4(5), 379-391 (PDF, 1,64MB)
Cystic fibrosis screening using the College panel: Platform comparison and lessons learned from the first 20,000 samples
Strom C M et al., Genetics in Medicine, 2002, 4(4), 289-296 (PDF, 334KB)
Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies
Scotet V et al., J Med Genet, 2002, 39, 443-448 (PDF, 215KB)
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
Grody W W et al., Genetics in Medicine, 2001, 3(2) (PDF, 80KB)

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