In Canada the diagnosis of CdLS is typically made by a geneticist using clinical findings or genetic testing. For a list of genetic clinics in Canada can be found here.

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Clinical Diagnosis

A diagnosis can be made without genetic testing using clinical findings. There is an estimated 30% of cases where genetic testing may come back as a false negative. This means that a change may have occurred on another gene that has not yet been identified as a cause of CdLS.

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The US CdLS Foundation has published a clinical tool to support diagnosis.

 

View the Clinical Diagnostic Criteria Tool here.

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As the field of genetics rapidly advances, we recommend individuals who have a clinical diagnosis to have molecular testing done to know which gene and the type of change has cause CdLS. Check out the "Know Your Genes Brochure".

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Genetic Testing

Genetic testing is completed first through blood samples using various genetic tests.  If they return as negative for CdLS a test for mosaicism should be completed using a cheek swab sample.  Learn more about mosaicism here.

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Watch the Genetic Testing Webinar here.

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