Genetic testing and sweat tests
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Costs for all testing:
All tests are free if requirements are met (I.e.. Test is ordered by a physician and/or testing is indicated.) If indication is not present, the test is not covered by provincial healthcare plans and must be paid out of pocket or through other methods.
Common Indications for testing:
1. Symptoms of CF
2. Family history of CF
3. Partner of someone with a history of CF and wanting to start a family
To inquire about getting a sweat test or genetic testing done, please contact the CF clinic nearest to you.
Sweat test:
The sweat test is for diagnosing cystic fibrosis. The test detects the abnormal function of the cystic fibrosis protein by measuring the amount of chloride (salt) present in the sweat. Sweat tests are generally ordered after newborn screening. If a protein in the baby’s heel prick blood serum called trypsinogen suggests they may have cystic fibrosis, a sweat chloride test is performed next to confirm or rule out cystic fibrosis.
A sweat test may also be ordered for someone if they are showing signs that they may have cystic fibrosis. Specifically for individuals who were born before newborn screening became routine in Canada or if they came from another country where newborn screening for cystic fibrosis is not common.
Generally, a sweat test is not done on someone who suspects they may be a carrier (possessing a CF gene mutation that is passed down but doesn’t have cystic fibrosis), since a carrier of a CF mutation would have sweat chloride results in the normal range, genetic testing would be the most appropriate diagnosis method.
Genetic testing:
Genetic testing can be used to confirm a CF diagnosis. A CF diagnosis includes a positive sweat test result and two identified CFTR mutations. Genetic testing includes testing for a panel of common CF mutations. Inconclusive tests can occur when an individual has a rare mutation, in which case further testing would be required. If you have a family history of CF and know the specific mutations, it is best to communicate that when seeking a test.
You can also get a genetic test done to confirm carrier status and for family planning purposes. It is important to note that carriers do not have CF and will have a sweat test measurement in the normal range.
Indications to obtain genetic testing (one of):
1. Symptoms of CF
2. Family history of CF
3. Partner of someone with a family history of CF and wanting to start a family