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.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
Note
 
CPT Code(s)
81200
Components
Component Test Code*Component Chart Name
0051455Canavan (ASPA) 4 Mutations, Allele 1
0051456Canavan (ASPA) 4 Mutations, Allele 2
0051457Canavan (ASPA) 4 Mutations, Interp
2001299Canavan (ASPA) 4 Mutations, Specimen
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Aliases