Canavan Disease, DNA-13559

Test info

Canavan Disease, DNA
Aminoacylase-2 deficiency
ASP(A) deficiency
Aspartoacylase deficiency

If cultured cells are needed, an additional 7-12 days may be required. Additional culture fee may be included.


Identification of carrier and affected individuals for four mutations, E285A, Y231X, 433-2A>G, and A305E, associated with Canavan disease


EDTA whole blood
7 mL
3.0 mL

Immediately following collection, mix sample thoroughly by gently inverting 8 - 10 times to prevent clotting


Lavender (EDTA), 4 mL








ACD whole blood
Amniotic fluid
Chorionic villus sample/CVS (submission of maternal blood is required for fetal testing)

Yellow ACD (A or B)


Sterile vial/container


Amniotic fluid - 10 mL (minimum 5mL)
Chorionic villus sample (CVS) - 20 mg (minimum 10 mg)

Yellow ACD (A or B)

Sterile plastic conical tube

Two (2) confluent T-25 flasks for fetal testing


 Molecular Medicare billing request

  • Complete and submit the form to notify us of the need for Allina Health Laboratory to bill insurance for Molecular testing performed
  • All information requested is required in order for your request to be completed


  • Frozen specimen
  • Hemolysis
  • Quantity not sufficient for analysis
  • Improper container


LabCorp RTP (511147): R-LC
2x/week, or as needed
8 - 15 days

Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis of four aspartoacylase gene mutations

Clinical and Interpretive info


An interpretive report will be included


Prenatal testing is available. Canavan disease (OMIM 271900) is an autosomal recessive progressive leukodystrophy that often leads to death in the first decade of life. It is caused by a deficiency of the enzyme, aspartoacylase (ASPA). Canavan disease is more common in the Ashkenazi Jewish population where about 1 in 40 persons is estimated to be a carrier. Couples who are both carriers have a one in four risk of having a child with Canavan disease. A305E is the Canavan mutation found among individuals of non-Ashkenazi Jewish ancestry. DNA test results must be combined with clinical information for the most accurate interpretation.


This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.
Result 21081-5