Canavan disease is a progressive, fatal neurological disorder. It is caused by variants in the ASPA gene which reduce aspartoacylase enzyme activity, resulting in an accumulation of a compound called N-acetyl-L-aspartic acid (NAA). Excess NAA damages the brain cells and causes the symptoms associated with Canavan disease. Most patients diagnosed with Canavan disease have the neonatal/infantile form, which is the severe form of Canavan disease.
Take this test to find out whether you are a genetic carrier of an ASPA variant and are at risk of passing a variant to your children.
This test examines ASPA gene variants that cause Canavan disease. These variants reduce the function of aspartoacylase, which leads to the accumulation of N-acetyl-L-aspartic acid (NAA). NAA can damage the myelin sheaths that surround nerve cells, leading to the characteristic symptoms of the disease.
Canavan disease is an autosomal recessive disorder, meaning that an individual must inherit two defective copies of the ASPA gene for symptoms to occur.
This test detects three genetic variants in the ASPA gene that cause Canavan disease.
E285A and Y231X account for 97% to 98% of Canavan disease-associated variants in Ashkenazi Jewish people. A305E is found in 40-60% of non-Jewish patients and 1% of Ashkenazi Jewish patients.
Understanding your carrier status for these variants will help you understand the risk of passing a variant to your children.
- NAA accumulation by 3-5 months of age
- Macrocephaly (an abnormally large head)
- Lack of head control
- Developmental delays
- Delayed motor skills
- Gradual loss of muscle tone
- Swallowing difficulties
- Optic atrophy (deterioration of the optic nerve)
How It Works
Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.