Canavan Disease Mutation Analysis
Use
This test aids in the diagnosis and screening of Canavan disease, an autosomal recessive neurodegenerative disorder caused by pathogenic variants in the ASPA gene. It is particularly useful for identifying carrier status—approximately 99% of mutations common in individuals of Ashkenazi Jewish heritage and about 60% in other populations—supporting both reproductive decision-making and clinical evaluation.
Special Instructions
For fetal testing, prior to submission please call 1‑866‑GENE‑INFO (1‑866‑436‑3463). Documentation of parental carrier status must be provided. A Maternal Cell Contamination Study (STR analysis) must be ordered concurrently, and a separate EDTA tube of maternal blood is required.
Limitations
Analytical detection is highly sensitive for common variants in the Ashkenazi Jewish population (approximately 99%), but has lower detection sensitivity (~60%) in other populations. Variants not common or not covered by this assay may not be detected.
Methodology
NGS
Biomarkers
LOINC Codes
- 21081-5
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL (3 mL minimum)
Minimum Volume
3 mL
Container
EDTA (lavender or royal blue‑top), ACD (yellow‑top), or sodium or lithium heparin (green‑top) tube
Storage Instructions
Store and ship at room temperature immediately. Do not freeze.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 8 days |
| Refrigerated | 8 days |
| Frozen | Unacceptable |