Cystic Fibrosis - CF Diagnosis (Delta 508 mutation) Test

Cystic fibrosis (CF) is a genetic disorder that affects the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms may include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in some males. Different people may have different degrees of symptoms.

CF is inherited in an autosomal recessive manner. It is caused by the presence of mutations in both copies of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Those with a single working copy are carriers and otherwise mostly normal. CFTR is involved in production of sweat, digestive fluids, and mucus. When CFTR is not functional, secretions which are usually thin instead become thick. The condition is diagnosed by a sweat test and genetic testing. Screening of infants at birth takes place in some areas of the world.

You do not need extra preparation for the sweat test, before the test avoid applying any creams or body lotions prior to 24 hours before the test. If the test is for small kids it’s better to bring an adult who can take care of the child

Sweat test indicates or can be detected following diseases.
frequent respiratory infections
chronic cough
continual diarrhoea
malnutrition
infertility in some adult males

A sweat test measures the level of salt in sweat. Generally, sweat on skin surface contains sodium and chloride and people who has CF have 2 to 5 times the normal case. During the test patient’s given a medicine that it tends to make patient to sweat and then it is collected on a paper or a gauze pad, and the specimen is sent to the lab and normally chloride is measured. Sweat test should be made within 48 hours of suspected CF, and also first month of CF sweat test should repeat. Sometimes younger babies does not give much sweat as should needed for the test and also sometimes chloride levels are so low with the children having CF.