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.
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.
The US CdLS Foundation has published a clinical tool to support diagnosis.
View the Clinical Diagnostic Criteria Tool here.
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.