Icahn School of Medicine at Mount Sinai
Mount Sinai - Twitter Mount Sinai - YouTube Mount Sinai - Facebook

Genetic Testing Lab

Test Catalog Molecular Genetics Laboratory Canavan Disease

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 mental retardation. Canavan 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>G. 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/during pregnancy.

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. The preferred anticoagulant is EDTA (lavendar top tubes), ACD (yellow top) tubes are also accepted.

Shipping: Send at room temperature.

Turnaround Time: 10-14 days

CPT Codes: 83891, 83892x2, 83900, 83901, 83912, 83914x2

Consent and Requisition Forms: Carrier Screening Requisition and Consent [PDF]

Additional Information: Jewish Genetic Screening Brochure [PDF]

Related Tests: Ashkenazi Jewish Carrier Test Panel

Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.