Ordering Recommendation

Carrier screening or diagnostic testing for Canavan disease for individuals of Ashkenazi Jewish descent.

Mnemonic
ASPA
Methodology

Polymerase Chain Reaction/Fluorescence Monitoring

Performed

Tue, Fri

Reported

5-10 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month

Reference Interval

By report

Interpretive Data

Background information for Canavan Disease (ASPA), 4 Variants:
Characteristics:
Canavan Disease is a neurodegenerative brain disorder that results in macrocephaly and lack of head control by 3 to 5 months of age. This progresses to a failure to achieve sitting, ambulation, or speech, and eventually leads to death typically in early childhood to teenage years.
Incidence:
1 in 10,000 Ashkenazi Jewish individuals.
Inheritance:
Autosomal recessive.
Cause:
ASPA pathogenic variants.
Variants Tested:
c.433-2A>G, p.Y231X (c.693C>A), p.E285A (c.854A>C), and p.A305E (c.914C>A).
Clinical Sensitivity: 99 percent in Ashkenazi Jewish individuals; 55 percent in other ethnicities.
Methodology:
Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity:
Greater than 99 percent.
Limitations:
Variants other than those tested will not be detected. Diagnostic errors can occur due to rare sequence variations.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81200

Components
Component Test Code* Component Chart Name LOINC
0051455 Canavan Disease (ASPA), Allele 1 21081-5
0051456 Canavan Disease (ASPA), Allele 2 21081-5
0051457 Canavan Disease (ASPA), Interpretation 46990-8
2001299 Canavan Disease (ASPA), Specimen 31208-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
Canavan Disease (ASPA), 4 Variants