Canavan Disease Genetic Carrier Test in Hawaii

What this test measures

Canavan disease is an inherited disorder caused by mutations in the ASPA gene, which provides instructions for an enzyme involved in breaking down a compound called N-acetylaspartic acid. When the enzyme does not work properly, this compound builds up and damages the brain's white matter. The condition is autosomal recessive, meaning a child must inherit a mutation from each parent to be affected.

A carrier has one altered copy of the gene and one working copy, which is usually enough for normal function, so carriers do not develop the disease. This test looks for a set of mutations known to be more common in people of Ashkenazi Jewish descent. The sample is blood, and the laboratory analyzes DNA from the sample. Carrier frequency varies among populations and ancestry groups.

Carrier testing is typically chosen by individuals or couples who want information before starting a family, particularly when both partners share an ancestry with a higher carrier rate. If both partners are carriers, a healthcare provider or genetic counselor can explain the chance of having an affected child and discuss options. The test does not diagnose a person with the disease.