Testing for cystic fibrosis includes genetic screening, newborn screening, and sweat testing. Early diagnosis can reduce the risk of complications and genetic screening can help parents determine if they are at risk of having a child with cystic fibrosis. The sweat test is the gold standard for diagnosis.
Testing for cystic fibrosis includes genetic screening, newborn screening, and sweat testing. A doctor can discuss options with patients to determine the best choice for a given situation. In all cases, if the results are positive, a doctor will usually recommend a follow-up and more tests to confirm the diagnosis and gather more information. This information will be helpful in managing a patient’s cystic fibrosis.
Genetic screening is cystic fibrosis carrier testing, in which parents receive a genetic test to see if they carry a copy of the gene associated with this disease. Cystic fibrosis is a recessive genetic disease and both parents need a copy of the gene for a child to develop the condition. Cystic fibrosis testing can help parents determine if they are at risk of having a child with cystic fibrosis. If only one parent is a carrier, there is no cause for concern. If both are carriers, there is a 25% chance that the child has the disease.
After babies are born, parents can request newborn screening. This is a standard offer in many hospitals. A technician will prick your child’s heel to collect a small blood sample and send it to a lab to be screened for a variety of genetic conditions. Parents should be aware that a positive newborn screening result does not mean that a child has cystic fibrosis. It just indicates that he may have the disease and another test is needed to make a diagnosis.
The gold standard in testing for cystic fibrosis is the sweat test. People with cystic fibrosis produce an unusual amount of sodium chloride in their sweat. In the sweat test, the technician applies a chemical to make the patient sweat and uses an electrode to gently stimulate the sweat glands and collect a sample. A laboratory analyzes sweat to see how much sodium chloride is present. The results can be negative, positive or indeterminate. If the test results are unclear, the patient should repeat the test.
People considering testing for cystic fibrosis can get it at most hospitals and clinics. If a facility can’t test samples itself, it can send them to a lab for analysis and return a result within days. Early diagnosis can be critical in providing interventions that reduce the patient’s risk of future complications. The advent of cystic fibrosis newborn testing in many nations has been a significant development in the treatment of cystic fibrosis, as it means that patients can start receiving treatment before they develop symptoms.
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