- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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.
|Component Test Code*||Component Chart Name||LOINC|
|0051455||Canavan (ASPA) 4 Mutations, Allele 1||21081-5|
|0051456||Canavan (ASPA) 4 Mutations, Allele 2||21081-5|
|0051457||Canavan (ASPA) 4 Mutations, Interp||46990-8|
|2001299||Canavan (ASPA) 4 Mutations, Specimen||31208-2|