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. Frozen specimens in glass collection tubes.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; 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.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

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