Luckily, the Canavan gene has been identified as the aspartoacylase (ASPA) gene, allowing parents to test for the deadly disease. If both parents are carriers of the ASPA gene, there is a 25% chance of having a child with Canavan Disease. Jacob’s Cure urges all expectant couples to seek genetic counseling.

Jacob's Cure recommends genetic testing prior to pregnancy as couples should consult with their doctors to learn about the many options to ensure a healthy pregnancy. For expectant couples that are both carriers of Canavan or any other genetic disease that is identified during screening, an amniocentesis or CVS will reveal whether or not the fetus is affected.

A urine or blood test can be performed to test for an elevated level of N-acetylaspartic acid (NAA.) An elevated level of this acid may suggest the presence of Canavan Disease. An MRI/Spectroscopy is routinely used to confirm the diagnosis as well.

For couples that are of different ethnic backgrounds, Jacob’s Cure suggests more intensive screening. For the partner who is not of Ashkenazi Jewish decent, Jacob’s Cure suggests that testing include the additional Canavan genetic mutations that have been identified in other ethnic backgrounds (upwards of 70 other mutations.)

Jacob’s Cure suggests asking your doctor or geneticist about sequencing in the event non-carrier status is determined for all identified mutations. Sequencing is a test that is performed to search for unidentified rare mutations.

Jacob's Cure recommends visiting the Genetic Disease Foundation and Mount Sinai to learn more about available genetic screenings. Please also ask your physician, OBGYN or geneticist about Microarry testing and FISH Microdeletion analyses. These are prenatal tests that indicate chromosomal abnormalities.

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