Canavan Disease (ASPA), 4 Variants

0051453
copy
 

Copy Utility


emailprint
Example Reports
Negative
See Note

Icon

Additional Technical Information
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 Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

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

Note
Hotline History
N/A
CPT Codes

81200

Are you an ARUP Client? Click here for your pricing.
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