Diagnosis and Testing
Who else in my family should I test for Canavan disease?
Carriers of autosomal recessive conditions such as Canavan disease generally do not show symptoms of the condition and are often unaware that they carry a change in the gene responsible. Family members of those with Canavan disease may wish to know whether they are carriers of a change in the ASPA gene for family planning purposes. Anyone who is a blood relative of a person with Canavan syndrome can be tested to see whether they are a carrier. It is best if the genetic changes in the ASPA gene that cause Canavan syndrome in the family are known before carrier testing of more distant relatives is done. A genetic counselor or physician with experience in Canavan disease can provide advice about how a diagnosis of the disorder can impact other family members.