Lab test

Canavan Disease Carrier Test - Ashkenazi

This test identifies carriers and affected individuals for Canavan disease by analyzing four specific mutations in the ASPA gene: E285A, Y231X, 433-2A>G, and A305E.

Typical price

From $249

Results

1-3 business days

Preparation

See preparation notes below

Sample

Blood draw or sample collection at a local center

This test identifies carriers and affected individuals for Canavan disease by analyzing four specific mutations in the ASPA gene: E285A, Y231X, 433-2A>G, and A305E. Canavan disease is a rare inherited neurological condition that is more common in people of Ashkenazi Jewish descent. Carriers usually have no symptoms but can pass a mutation to a child. Clinicians order it for reproductive planning and family-risk assessment.

• ASPA gene mutations (E285A, Y231X, 433-2A>G, A305E) The four genetic variants analyzed to identify Canavan disease carriers and affected individuals.

• People of Ashkenazi Jewish descent planning a pregnancy.
• Individuals with a family history of Canavan disease.
• Couples considering reproductive carrier screening.
• People with a partner known to be a Canavan carrier.
• Anyone with symptoms prompting evaluation for a neurological condition.

• No fasting is required for Canavan carrier testing.
• Take usual medications unless told otherwise.
• Share family history and reproductive plans.
• A blood or saliva sample may be used.
• Genetic counseling is advised before and after testing.

Detection of one of the analyzed ASPA mutations can indicate carrier status, while certain combinations may indicate an affected individual. Carriers typically have no symptoms but can pass the condition to a child if both partners are carriers. Because results can have family-planning implications, review them with a genetic counselor. Discuss the findings with a healthcare provider and genetic counselor.

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