Canavan disease

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.

Matalon R, Michals-Matalon K. GeneReviews website. Updated August 11, 2011. Retrieved April 29, 2016, from http://www.ncbi.nlm.nih.gov/books/NBK1234/

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