Canavan Disease (ASPA) 4 Mutations
0051453
Ordering Recommendation
Diagnostic testing for Canavan disease.  Carrier screening for Canavan disease.
Mnemonic
ASPA
Methodology
Polymerase Chain Reaction/Primer Extension
Performed
Tue, Thu
Reported
7-10 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
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report  
Interpretive Data
Background information:
Characteristics:
A neurodegenerative brain disorder resulting in macrocephaly and lack of head control by three to five months of age. Affected individuals fail to achieve sitting, ambulation, or speech, and often die in early childhood to teen years.
Incidence:
1 in 10,000 Ashkenazi Jewish individuals, unknown in other ethnicities.
Inheritance:
Autosomal recessive.
Cause:
PathogenicASPA gene mutations.
Mutations Tested:
c.433-2A>G, p.Y231X (c.693C>A), p.E285A (c.854A>C), and p.A305E (c.914C>A).
Clinical Sensitivity:
98 percent in Ashkenazi Jewish; 55 percent in non-Ashkenazi Jewish.
Methodology:
Multiplex polymerase chain reaction and Detection Primer Extension.
Analytical Sensitivity and Specificity:
Greater than 99 percent.
Limitations:
Mutations other than those tested will not be detected. Diagnostic errors can occur due to rare sequence variations.





See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
Note
 
CPT Code(s)
81200
Components
Component Test Code*Component Chart NameLOINC
0051455Canavan (ASPA) 4 Mutations, Allele 121081-5
0051456Canavan (ASPA) 4 Mutations, Allele 221081-5
0051457Canavan (ASPA) 4 Mutations, Interp46990-8
2001299Canavan (ASPA) 4 Mutations, Specimen31208-2
* 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