Canavan Disease

Alternate test name

ASPA deficiency
Aspartoacylase Deficiency

Gene name / Alternate gene name

ASPA

ACY2, ASP

Protein

Aspartoacylase

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

Canada

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: molecular.lab@sickkids.ca

Email Cytogenetics: cytogenetics.requests@sickkids.ca

Requisition

Canavan Disease - requisition

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)