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Paediatric Laboratory Medicine

Canavan Disease: ASPA Recurrent Mutations

Clinical Significance

Canavan disease (CVN) exhibit progressive mental retardation, 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.

Test Name

Canavan Disease: ASPA Recurrent Mutations

Alternate Name/ Synonym

  • ASPA deficiency
  • Aspartoacylase Deficiency

Gene Name

  • ASPA

Alternate Gene Name

ACY2, ASP

Test Code

CANAV

Division

Molecular Genetics

Method

Targeted analysis of recurrent mutations

External Proficiency Testing

CAP

Turn Around Time

2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine)

Protein

Aspartoacylase

Disease/Condition

Canavan Disease (part of the Ashkenazi Jewish screening panel)

Specimen Type

Blood; gDNA.

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

Minimum Specimen Requirements

5-10 mL EDTA or ACD0.5 mL EDTA (neonate); minimum 10 ug in 100 uL low TE (pH8.0)

Storage/Transportation

Room Temperature

Special Requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Approval is not required

CPT Codes

81479

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Canada
Phone: 416-813-7200
Phone: 1-855-381-3212

Interpretation

Interpretation is provided in report