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.
Provinces and Procedures
Newfoundland and Labrador
- Request must be made by the CF team or a physician.
- Test is collected locally and processed at Janeway Children’s Hospital
Ontario
- Referral from a physician.
- Sweat tests can be performed at the CF clinics in Ottawa, Kingston, Toronto, Hamilton, Kitchener, London and Sudbury.
Alberta
- Referral made by a physician.
- Patients captured in NBS are booked and community physicians can book tests directly.
- Sweat tests can be performed at Alberta Children’s Hospital, University of Alberta Hospital, Stollery Children’s Hospital.
Manitoba
- Referral for testing is required by a physician.
- Sweat tests can be performed at the respiratory clinic at the Children's Hospital of Winnipeg (children and adults).
Quebec
- Referral for testing is required by a physician.
- Hospitals with CF clinics offer sweat tests, but the official referral centres include: Centre Hospitalier Universitaire de Québec – Université de Laval (Ville de Québec) - Centre Hospitalier Universitaire de Sherbrooke - Centre Hospitalier Universitaire de Sainte-Justine (CHU SainteJustine) - Centre Universitaire de Santé de McGill (CUSM).
Nova Scotia
- Referral for testing is required by a physician.
- Sweat tests can be done at IWK Health Centre.
New Brunswick
- Referral required by a physician.
- Sweat tests are done as outpatient tests and performed at your closest hospital.
Saskatchewan
- Referral required by a physician.
- Sweat tests are performed once a week at the labs in Regina General Hospital and Jim Patterson Children’s Hospital.
British Columbia
- Indication for testing is required and must be ordered by a physician.
- Victoria (Royal Jubilee, Victoria General): Requisition is sent to either Nanaimo General Hospital or Victoria General Hospital.
- Vancouver: Sweat tests are done at BC Children’s Hospital - BC Children’s Hospital has a list of hospitals that do sweat tests for outreach clinics.
Yukon
- Indication for testing is required and must be ordered by a physician.
- Victoria (Royal Jubilee, Victoria General): Requisition is sent to either Nanaimo General Hospital or Victoria General Hospital.
- Vancouver: Sweat tests are done at BC Children’s Hospital - BC Children’s Hospital has a list of hospitals that do sweat tests for outreach clinics.
Northwest Territories
- Referral made by a physician.
- Patients captured in NBS are booked and community physicians can book tests directly - Sweat tests can be performed at Alberta Children’s Hospital, University of Alberta Hospital, Stollery Children’s Hospital.
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
Provinces and Procedures
Newfoundland and Labrador
- If testing is indicated, the patient is referred to genetics for further testing.
- Tests are done at Janeway Hospital.
Ontario
- Indications for testing are required.
- Requisition to SickKids for testing: SickKids letterhead
Alberta
- Stollery: Patients are referred to the Genetic Counselling Clinic through Alberta Health Services. This is free and there must be an indication for testing.
- Alberta Children’s Hospital: referral is required to receive genetic testing.
- University of Alberta Hospital: referral required to receive genetic testing. Test is done at the lab at the University of Alberta
- Eligibility: Cystic Fibrosis Testing: Information for Ordering Providers (albertahealthservices.ca)
Manitoba
- Referral for testing is required by a respirologist or geneticist.
- Must have an indication for testing, symptoms, family history etc.
- Tests are done at any local lab and processed at Winnipeg Health Sciences Centre.
Quebec
- Referral for testing is required by a physician.
- Blood samples are obtained locally and sent to the McGill University Health Centre (MUHC) / Centre Université de Santé McGill (CUSM) for processing.
- Individuals must have an indication for testing (symptoms, family history etc.).
- If no indication is present, they can request by their family doctor to public health care.
- * Quebec patients at Ottawa General have their sample sent to McGill University Hospital.
Nova Scotia
- There must be an indication for testing, typically done on individuals with CF and their parents.
- Carrier testing is not completed on minors.
New Brunswick
- Referral provided by physician.
- Tests are sent to be processed at IWK Health Centre.
Saskatchewan
- Free if you have an indication for testing.
- Requisition must be made by a specialist or referred to a specialist by your family doctor.
- Tests can be done at any lab and sent to Edmonton for processing.
British Columbia
- Must have an indication for testing (Symptoms, family history etc.)
- Covered if requirements are met.
- A lab requisition is sent to the patient's local hospital where the test is done and then sent to BC Children’s hospital for testing.
Yukon
- Must have an indication for testing (Symptoms, family history etc.)
- Covered if requirements are met.
- A lab requisition is sent to the patient's local hospital where the test is done and then sent to BC Children’s hospital for testing.
Northwest Territories
- Stollery: Patients are referred to the Genetic Counselling Clinic through Alberta Health Services. This is free and there must be an indication for testing.
- Alberta Children’s Hospital: referral is required to receive genetic testing.
- University of Alberta Hospital: referral required to receive genetic testing. Test is done at the lab at the University of Alberta.
- Eligibility: Cystic Fibrosis Testing: Information for Ordering Providers (albertahealthservices.ca)