Cystic fibrosis
See our geneSCREEN Cystic Fibrosis test that we offer to screen for mutations of this disorder.
Cystic fibrosis (CF) is an inherited disease that can affect the lungs, digestive system, sweat glands, and male infertility. Despite advances in treatment, CF remains incurable. Repeated infections and blockages from the excess mucus produced by cystic fibrosis can cause irreversible lung damage and an early death.
CF affects 1 in every 2,500 Australian babies born. It is estimated that 1 in every 25 Caucasian Australians is a carrier. Carriers exhibit no symptoms of the disease.
Faulty CF genes are also found in people from other ethnic groups, but the frequency is less. For example, only 1 in 90 Asian people is a carrier. Individuals with a family history of CF have a higher chance of being a carrier, but over 85% of children born with CF do not have a known family history of the disease.
There are more than 1000 known mutations for the CF gene and the chance for having a mutation in the gene for CF depends on your ethnic background. If you and your partner are screened and neither of you carries a detectable mutation, the risk of having a child affected by CF is greatly reduced however, the risk is never zero, as not all CF mutations can be tested.
Some other known facts: