Canavan Disease

Test Description:

Canavan disease (CD) is a progressive, autosomal recessive disease of the central nervous system for which there is no treatment, caused by mutations in the ASPA gene. Symptoms begin in infancy including poor head control, generalized weakness, and enlarged head size. Affected infants also develop seizures, regression of early developmental milestones, and severe intellectual disability. The disease is typically fatal in childhood. CD is prevalent among people of Ashkenazi Jewish ancestry with an estimated carrier frequency of approximately 1 in 55. The most common ASPA mutations in the Ashkenazi Jewish population are p.E285A, p.Y231X, p.A305E, c.433-2A&gtG. Testing for these four mutations is expected to detect approximately 97% of CD carriers of Ashkenazi Jewish descent. The American College of Obstetricians and Gynecologists and the American College of Medical Genetics recommend that carrier screening for CD be offered to individuals of Eastern European (Ashkenazi) Jewish ancestry before or during pregnancy.

Full gene sequencing is available for reproductive partners of known mutation carriers. Prenatal diagnosis is also available. Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.


1. Kaul R, Gao GP, Balamurugan K, Matalon R. Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan Disease. Nature Genet 5: 118-123, 1993.
2. Kaul R, Balamurugan K. Gao G, Matalon R. Canavan Disease: Genomic organization and localization of human ASPA to 17p13-ter and conversation of the ASPA gene during evolution. Genomics 21: 364-370, 1994.
3. Kaul R. Gao GP, Aloya M, Balamurugan K, Petrosky A, Michals K, Matalon R. Canavan Disease: Mutations among Jewish and Non-Jewish patients. Am J Hum Genet 55: 34-41, 1994.
4. Scott, S.A., Edelmann, L., Liu, L., Luo, M., Desnick, R.J. and Kornreich, R. Experience with carrier screening and prenatal diagnosis for sixteen Ashkenazi Jewish Genetic Diseases. Hum. Mutat. 31:1-11, 2010.

Specimen Requirements


Two 5-10 mL tubes of anticoagulated blood in EDTA (lavender top) or two 5-10 mL tubes of anticoagulated blood in ACD (yellow top).


Chorionic Villi: 5-10 mg in conical tube with sterile saline OR transport media
Amniotic Fluid: 10 ml in conical tube
Cultured Cells: two confluent T-25 flasks

Additionally, please send:

5-10 ml maternal blood in EDTA (lavender top) required to perform MCC studies on all prenatal samples and in case maternal confirmation studies are necessary
5-10 ml paternal blood in EDTA (lavender top) in case paternal confirmation studies are necessary

Ordering Information


Send at room temperature.

Turnaround Time:

10-14 days

CPT Code:


Forms and Brochures

Carrier Screening Requisition and Consent [PDF]