Test library
Canavan Disease Carrier Screening
The Canavan Disease Carrier Test uses a blood sample to look for common genetic mutations linked to Canavan disease. It is used to identify carriers, often for people with Ashkenazi Jewish ancestry planning a family.
Order Canavan Disease Carrier Test
Order online and visit a local collection site, or choose an at-home kit where available. No referral and no insurance required.
Order Canavan Disease Carrier Test- Typical turnaround
- 1-3 business days
- Starting price
- From $249
- Results
- Confidential, online
Quick answer
The Canavan Disease Carrier Test is a genetic blood test that checks for mutations associated with Canavan disease. Canavan disease is an inherited metabolic condition that affects the nervous system, and carriers typically have no symptoms. The test is often offered to people with Ashkenazi Jewish ancestry, who have a higher carrier frequency, and is used to inform family planning discussions with a healthcare provider.
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.
- ASPA gene mutation analysis
- E285A mutation
- Y231X mutation
- 433-2A>G mutation
- A305E mutation
- Additional founder mutations when an expanded panel is used
Why people order this test
- Determine carrier status for Canavan disease
- Inform family planning before pregnancy
- Support testing when there is a family history
- Evaluate risk in people of Ashkenazi Jewish ancestry
- Confirm carrier status after an affected child
- Provide information for a genetic counseling discussion
How to prepare
No fasting is required for this test. A blood sample is drawn from a vein, usually at the arm, or a cheek swab may be used depending on the laboratory. Follow the collection instructions supplied with the order.
Understanding your results
Results are typically available within one to three business days. The report identifies whether any of the tested mutations were detected. A negative result reduces but does not eliminate the chance of being a carrier, since other uncommon mutations may exist. A genetic counselor or healthcare provider can interpret the result.
Canavan Disease Carrier Screening by state
Alabama
Canavan Disease Carrier Screening across Alabama.
Alaska
Canavan Disease Carrier Screening across Alaska.
Arizona
Canavan Disease Carrier Screening across Arizona.
Arkansas
Canavan Disease Carrier Screening across Arkansas.
California
Canavan Disease Carrier Screening across California.
Colorado
Canavan Disease Carrier Screening across Colorado.
Connecticut
Canavan Disease Carrier Screening across Connecticut.
Delaware
Canavan Disease Carrier Screening across Delaware.
Florida
Canavan Disease Carrier Screening across Florida.
Georgia
Canavan Disease Carrier Screening across Georgia.
Hawaii
Canavan Disease Carrier Screening across Hawaii.
Idaho
Canavan Disease Carrier Screening across Idaho.
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Frequently Asked Questions
What is Canavan disease?
It is an inherited metabolic disorder that affects the nervous system. It is caused by mutations in a gene that helps break down a specific compound in the brain.
What does it mean to be a carrier?
A carrier has one altered copy of the gene and one normal copy. Carriers usually have no symptoms but can pass the altered copy to a child.
Who should consider this test?
It is often offered to people with Ashkenazi Jewish ancestry and to anyone with a family history of Canavan disease. A healthcare provider can advise.
How is the sample collected?
The test usually uses a blood sample drawn from a vein, though some laboratories offer a cheek swab collection. Follow the instructions provided.
If I am a carrier, will my child have the disease?
Only if both parents are carriers is there a chance of having an affected child. A genetic counselor can explain the specific risk.
Ready to get tested?
Order online and visit a collection site near you, or choose a mail-in kit. No referral and no insurance required.
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Every page on this site is reviewed for clarity, sourcing, and accuracy. We update our library as testing options, collection networks, and accreditation standards change.