A medical physician can run a test known as the chloride sweat test that can be used to help diagnose cystic fibrosis. Cystic Fibrosis is a systemic disease that primarily affects the lungs and causes thick mucous secretions to build up in the airway and therefore causes breathing problems.
-Doctors take a sweat test to see if you have cystic fibrosis.-About 2,500 babies are born with cystic fibrosis each year.
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The sweat test is both the easiest and most accurate test for CF. In this test, a small amount of the drug pilocarpine is placed on the skin.
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take a genetic test - a blood or tissue sample is analysed for specific mutations
A lavender-top tube, also known as an EDTA tube, is commonly used to draw blood for cystic fibrosis testing. This tube is used for collecting whole blood samples for analysis, such as genetic testing for cystic fibrosis.
The best way to predict the probability of a baby having cystic fibrosis (CF) is through genetic testing of the parents, specifically looking for mutations in the CFTR gene. If both parents are carriers of the CF gene mutation, there is a 25% chance with each pregnancy that their child will inherit cystic fibrosis. Additionally, prenatal testing methods like chorionic villus sampling (CVS) or amniocentesis can be used to test the fetus directly for CF. Genetic counseling can also provide valuable information and support for prospective parents.
Cystic fibrosis can be detected through a combination of genetic testing, sweat chloride testing, and certain diagnostic imaging tests like chest X-rays or CT scans. Additionally, symptoms such as chronic respiratory issues, digestive problems, and salty skin can also be indicators of cystic fibrosis. A thorough medical evaluation by a healthcare provider is necessary for an accurate diagnosis.
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DefinitionSweat electrolytes is a test that measures the level of chloride in sweat. Although genetic tests have become important methods for determining whether a child has cystic fibrosis, the sweat chloride test remains important.Alternative NamesSweat test; Sweat chloride; Iontophoretic sweat testHow the test is performedIn the first part of the test, a colorless, odorless chemical that causes sweating is applied to a small area on an arm or leg. An electrode is then attached to the arm or leg, which allows the technician to apply a weak electrical current to the area to stimulate sweating.People may feel a tingling sensation in the area, or a feeling of warmth. This part of the procedure lasts approximately 5 minutes.The next part of the test involves cleaning the stimulated area and collecting the sweat on a piece of filter paper or gauze, or in a plastic coil. After 30 minutes, the collected sweat is sent to a hospital laboratory for analysis. The entire collection procedure takes about 1 hour.How to prepare for the testNo special preparation is necessary. Make sure the center where the test is being performed is a cystic fibrosis testing center.How the test will feelThough the test is not painful, some people describe a tingling sensation at the site of the electrode. In smaller children or infants, the sensation can cause irritability or discomfort.Why the test is performedSweat testing is the standard method for diagnosing cystic fibrosis. People with cystic fibrosis have higher amounts of sodium and chloride in their sweat, which the test can detect.Some people are referred for testing because of symptoms such as poor growth, many respiratory infections, or foul-smelling stools. In some states, newborn screening programs test for cystic fibrosis, and the sweat test is used to confirm these results.Normal ValuesA sweat chloride test result less than or equal to 39 mEq/L in an infant over 6 months old probably means cystic fibrosis is not present.A result between 40 - 59 mEq/L does not give a clear diagnosis. Further testing is needed.If the result is 60 mEq/L or greater, cystic fibrosis is present.Note: mEq/L = milliequivalent per literNormal value ranges may vary slightly among different laboratories. Talk to your doctor about the meaning of your specific test results.What abnormal results meanAn abnormal test may indicate the presence of cystic fibrosis.ReferencesBoat TF, Acton JD. Cystic fibrosis. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics.18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 400.Farrell PM, Rosenstein BJ, White TB, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic fibrosis consensus report. Journal of Pediatrics. Aug 2008;153(2).