How is Canavan disease diagnosed?

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How is Canavan disease diagnosed?

If your healthcare provider suspects Canavan disease, you may have several tests to diagnose it:

  • Blood or urine tests that test for levels of NAA or ASPA or tests that look for the genetic mutation.
  • Lab tests of specific skin cells (called cultured fibroblasts) to look for a lack of ASPA.

Canavan disease may be diagnosed before your baby is born. Amniocentesis is a test that uses a sample of the fluid that surrounds your fetus to measure levels of NAA. It’s usually performed when a birthing parent is 15 to 20 weeks pregnant.

Another test is available for parents with a high risk of Canavan disease or a known genetic mutation. Chorionic villus sampling (CVS) uses a tissue sample from your placenta to test for the genetic mutation. It’s performed when a birthing parent is 10 to 12 weeks pregnant.

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