Canavan Disease (ASPA), 4 Variants
Also known as: ASPA
Use
Canavan Disease is a neurodegenerative brain disorder primarily affecting individuals of Ashkenazi Jewish descent. The test screens for four specific pathogenic variants in the ASPA gene, which are associated with this autosomal recessive condition. The test is crucial for carrier screening or diagnostic testing to determine the risk or presence of Canavan Disease, significantly reducing the carrier risk from approximately 1 in 50 to 1 in 4,900 in individuals of Ashkenazi Jewish descent when the result is negative.
Special Instructions
New York clients must provide informed consent with test submission. Counseling and informed consent are recommended for all genetic testing related to this disease. Clients are encouraged to use the informed consent form available online and ensure it accompanies the test order, especially for NY patients.
Limitations
This test targets only the four specific pathogenic variants in the ASPA gene (c.433-2A>G, p.Y231X, p.E285A, and p.A305E). It may not detect other ASPA variants or abnormalities. Diagnostic errors are possible due to rare sequence variations, and the test does not account for these undetected variants. Consequently, the analytical sensitivity and specificity are not complete for all possible ASPA mutations beyond the four tested.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 21081-5
- 46990-8
- 31208-2
Result Turnaround Time
5-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B)
Storage Instructions
Preferred transport temp: Refrigerated.
Causes for Rejection
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. Frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 3 days |
| Refrigerated | 1 week |
| Frozen | 1 month |