Canavan Disease, DNA

Alphabetical Test listing

Canavan Disease, DNA-13559

  
Canavan Disease, DNA
  
13559
  
LAB13559
  
CANAVAN
  
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
  
3mL
  

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
  

Ambient

  
  • 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

  

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.
  
81200
  
Yes
  
  
Result 21081-5
  
03/27/2019
  
03/10/2021
  
02/19/2021