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Canavan Disease

Alternate test name
  • ASPA deficiency
  • Aspartoacylase Deficiency
Gene name / Alternate gene name
  • ASPA
Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
Targeted analysis of recurrent mutations
Expected turn-around time
Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks
Specimen type

Blood; gDNA.

For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).

Specimen requirements
  • Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate); 
  • DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Storage and transportation

Room Temperature

For details about specimen requirements, please refer to: Specimen Type and Requirements

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
Background and clinical significance

Canavan disease (CVN) exhibit progressive intellectual delay, atonia of neck muscles, macrocephaly, hyperextension of legs, flexion of arms and blindness. Although survival rates vary, the majority of patients with CVN die in childhood. CVN is an AR disorder caused by a deficiency of the enzyme aspartoacylase, which breaks down N-acetylaspartic acid (NAA). The gene for aspartoacylase (ASPA) has been localized to chromosome 17p13-pter. Four mutations in the ASPA gene account for 98% of the mutations seen in AJ individuals affected with CVN.

See related information sheet: Ashkenazi Jewish Screening Panel

Disease condition

Canavan Disease (part of the Ashkenazi Jewish screening panel)

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