Canavan Disease, DNA
Canavan Disease, DNA-13559
3/20/2023: This test order is currently unavailable. To order a referred alternate, place a MSO order for LabCorp (482370) GeneSeq PLUS
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
Immediately following collection, mix sample thoroughly by gently inverting 8 - 10 times to prevent clotting
Lavender (EDTA), 4 mL
Amniotic fluid
Chorionic villus sample/CVS (submission of maternal blood is required for fetal testing)
Yellow ACD (A or B)
Sterile vial/container
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
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.
Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medical billing request form along with the sample.
- 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