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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

Test info

Test name:

Canavan Disease, DNA

Test number:

13559

Excellian order number:

LAB13559

Abbreviation:

CANAVAN

Alternate names:

Aminoacylase-2 deficiency
ASP(A) deficiency
Aspartoacylase deficiency

Tests included:

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

Useful for:

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

Specimen

Specimen type:

EDTA whole blood

Collection container:

Lavender (EDTA), 4mL

Volume:

7 mL

Minimum volume:

3.0 mL

Collection instructions:

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

Transport container:

Lavender (EDTA), 4 mL

Alternate specimen type:

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

Alternate collection container:

Yellow ACD (A or B)

Sterile vial/container

Alternate specimen volume:

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

Alternate transport container:

Yellow ACD (A or B)

Sterile plastic conical tube

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

Required forms/information:

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

Transport and stability:

Ambient

Reason for rejection:

Frozen specimen
Hemolysis
Quantity not sufficient for analysis
Improper container

Performance

Performing lab:

LabCorp RTP (511147): R-LC

Days set up:

2x/week, or as needed

TAT:

8 - 15 days

Method:

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

Clinical and Interpretive info

Reference ranges:

An interpretive report will be included

Clinical information:

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.

Billing

Preauthorization:

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

CPT codes:

81200

Subject to medical necessity (Y/N):

Yes

LOINC code:

Result 21081-5

Other billing information:

Medical necessity

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

Molecular Medicare billing request

Tracking

Date created:

03/27/2019

Revised date:

01/02/2024

Review date:

01/02/2024