To diagnose cystic fibrosis (CF)
Sweat Chloride Test
When an infant or child has symptoms that suggest cystic fibrosis, such as frequent respiratory infections and chronic cough, persistent diarrhoea, foul-smelling bulky greasy stools, and malnutrition, or following abnormal results in the newborn screening (blood spot) test for CF.
A sweat sample collected using a special sweat stimulation procedure
None. However, you may be instructed to avoid applying creams or lotions to your skin 24 hours before the test. Also, it is important to be well-hydrated before undergoing the procedure.
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How is it used?
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When is it requested?
The sweat chloride test is performed when a patient (usually an infant) has symptoms of CF, has a close relative who has been diagnosed with CF or has had a positive or equivocal (uncertain) result from a blood spot in the Newborn Screening programme. CF symptoms include noticeably salty sweat, frequent respiratory infections and chronic cough, persistent diarrhoea, foul-smelling bulky greasy stools, or malnutrition.
CF gene mutation analysis tests for the most common CF gene mutations. If the analysis is negative, then the patient may not have CF or they may have one of the, almost 1000, rarer mutations not tested for. In this situation, sweat chloride testing may detect CF even if the genetic mutations causing it cannot be identified.
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What does the test result mean?
A positive sweat chloride test indicates that there is a good chance that the patient has CF. Positive sweat chloride tests are usually repeated for verification and confirmed, wherever possible, with a positive CF gene mutation analysis.
A negative sweat chloride test must be considered alongside the patient’s clinical findings. A few people with CF will have normal sweat chloride levels and will have to be evaluated using other tests.
The sweat test may not always be useful in newborns. They may not produce enough sweat for a reliable diagnosis, so the test may have to wait until the baby is several months old. Other situations where the sweat test is not recommended would be where the child is dehydrated or where there is a skin problem such as eczema covering the area where sweat would be collected from. -
Is there anything else I should know?
The sweat chloride test will not pick up carriers of cystic fibrosis. It takes two mutated (abnormal) copies of the CFTR gene to cause cystic fibrosis. Those who are only carriers, and therefore have one normal and one abnormal gene, will not have sweat chloride abnormalities.
The sweat chloride test should only be performed at specialised centres with experience with this kind of testing. Otherwise, problems in accuracy can arise.
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If one of my children has CF and a positive sweat chloride test, should my other children be tested?
Yes, if they are symptomatic. If not and/or if the genetic mutations causing your child’s CF are known, your doctor may prefer to test the brothers or sisters (siblings) for these specific mutations. This will let them know if your children have CF or are just carriers. Carriers are not ill and do not need treatment, but they may want to consider genetic counselling before they decide to have children themselves. Some doctors do not recommend testing on siblings unless they are symptomatic; testing and counselling for reproductive choices can be done later.
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What other tests may my doctor recommend if my child has CF?