- ASPA deficiency
- Aspartoacylase Deficiency
For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
For details about specimen requirements, please refer to: Specimen Type and Requirements
If sample shipment >48 hours, ship on ice.
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
Canavan Disease (part of the Ashkenazi Jewish screening panel)
Browse tests by laboratory
Toll Free: 1-855-381-3212