What is involved in the diagnosis of cystic fibrosis?

Cystic fibrosis is a genetic disorder that causes body secretion, such as mucus and digestive fluid that is sticky and thick. Because these strong secretions are not easily released by the body, they are built in organs and cause complications such as chronic lung infections and lung damage, as well as poor nutrient absorption. Early diagnosis of cystic fibrosis, followed by ongoing treatment, can significantly improve the life length of the individual with the condition. The diagnosis of cystic fibrosis usually includes a combination of blood and sweat tests and in some cases genetic testing. Advances in genetic testing now allow the identification of cystic fibrosis even in unborn children. After the blood sample has been removed, it is examined due to the digestive chemical called immunoreactive trypsinogen (IRT), which is usually present in the concentration of blood -suffering cystic fibrosis. If a high concentration of IRT is detected, further testing is performed to confirm the diagnosis of cystic fibrosis.

In newborns whose blood shows a high concentration of IRT, the sweat test is often used to confirm the diagnosis of cystic fibrosis. The genetic defect that causes this condition inhibits the body's ability to transport salt in and out of the cells. As a result, those with cystic fibrosis tend to have very salty sweat. During the sweat test, the stain of the skin of chemicals that stimulates sweating is wiped and the sweat produced is then absorbed by a strip of paper. If the paper shows that the sweat contains a large amount of salt, cystic fibrosis may be diagnosed.

If the results of the sweat test prove inconclusive, doctors may recommend genetic testing to verify the diagnosis of cystic filibrosis. During the testing of genetic cystic fibrosis, the blood sample is drawn and then sent to the laboratory, where genes are found in it studied to evidence of a defect that causes a failure. In addition to using to confirm cystic fibrosisAfter ambiguous sweat test results, genetic testing can also be performed in unborn children who have an increased risk of condition. Children who are considered a high risk of developing the condition are those whose parents are both cystic fibrosis gene carriers.