The first diagnosis of CdLS is primarily a clinical one based on signs and symptoms observed through an evaluation by a physician, including a medical history, physical examination and laboratory tests. If CdLS is suspected there are currently a few tests possible based on the gene-changes. Based on the country you live in there might be different tests possible; both blood-based as well as test on mouth-saliva.

Although three separate gene mutations have been identified as causing CdLS, not every person tests positive for one of these gene changes in these tests, especially blood tests. If you suspect your child has CdLS, a genetic specialist can help.

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