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Canavan Disease Carrier Testing

  • Direct-to-consumer lab testing; No doctor referral or insurance necessary

  • 2,000+ conveniently located CLIA-certified U.S. labs

  • Comprehensive and easy-to-use website

  • Outstanding customer service

  • 110% price guarantee

  • Results in 1-3 days

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About Our Canavan Disease Carrier Testing

Note: Fasting is not required for this test.

Canavan disease is an autosomal recessive progressive leukodystrophy that often leads to death in the first decade of life. Leukodystrophies are a group of rare genetic disorders that affect the central nervous system by disrupting the growth or maintenance of the myelin sheath that insulates nerve cells.

Canavan disease is caused by a deficiency of the enzyme, aspartoacylase (ASPA). Canavan disease is more common in the Ashkenazi Jewish population where about 1 in 40 persons is estimated to be a carrier.

This blood test identifies carriers and affected individuals for four mutations associated with Caravan disease: E285A, Y231X, 433-2A>G, and A305E.

Couples who are both carriers have a one in four risk of having a child with Canavan disease.

  • A305E is the Canavan mutation found among individuals of non-Ashkenazi Jewish ancestry.
  • This test detects 98% of mutations responsible for Canavan disease in Ashkenazi Jews, and 60% of mutations in non-Jewish Caucasians.

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