Canavan Disease (Aspartoacylase Deficiency) via the ASPA Gene
Use
This test is intended for individuals with a clinical or suspected diagnosis of Canavan disease, those with elevated N-acetylaspartic acid (NAA) in urine, and reproductive partners of individuals with a known pathogenic variant in the ASPA gene. Canavan disease is a genetic disorder characterized by the progressive degeneration of white matter in the brain, leading to severe neurological impairments and typically resulting in early mortality. Genetic testing via the ASPA gene can confirm the diagnosis and assist with reproductive planning and potential prenatal testing.
Special Instructions
The test is conducted using NGS with CNV analysis on the Exome or Genome platform. It is important to ensure that specimens are properly collected and preserved as per provided instructions, as different platforms may require different specimen types. Clients should verify their testing options and any potential additional costs, such as exome-wide CNV analysis, before placing an order. For expedited processing, STAT testing is available and can be requested at an additional charge.
Limitations
The test does not cover all genes beyond ASPA and may not detect all mutations associated with Canavan disease. The performance characteristics are validated following CAP and CLIA regulations, but the test has not been cleared or approved by the FDA. The presence of certain rare mutations or low allele frequencies beyond the detection threshold of the NGS platform may result in false negatives. Environmental factors and specimen handling issues such as contamination or degradation may affect the accuracy of the results.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided