Days Set Up
Analytic Time

10 - 14 days

MiChart Code
Canavan Disease Mutation Detection(Sendout)
Soft Order Code

Test Updated:


Canavan Disease Mutation

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Find a Requisition

All specimens should be accompanied by a requisition.

Submitting Specimens

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MLabs provides all the supplies necessary for the collection of specimens.

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Test Overview

Test Methodology

Polymerase Chain Reaction (PCR) detection of E285A, Y231X (C->A), 433(-2)A->G, and A305E mutations

Test Usage

Carrier testing for individuals with family history; prenatal diagnosis in at-risk pregnancies; carrier screening for Individuals of Ashkenazi Jewish Descent; confirmation of clinical diagnosis (however, note that testing for N-acetylaspartic acid in urine is the preferred method of establishing the diagnosis of Canavan Disease).

Reference Range

Interpretive report provided

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Specimen Requirements

Collection Offsite

Collect specimen in sufficient yellow top (ACD) solution A or a lavender top tubes. Send intact whole blood at room temperature. Amniotic Fluid (20 mL in 2 sterile tubes, refrigerated) or Chorionic Villus (20 mg in sterile transport medium, refrigerated) specimens are also acceptable. All prenatal specimens must be accompanied by a maternal blood specimen.

Normal Volume
3 mL whole blood or 20 mL amniotic fluid
Minimum Volume
0.5 mL whole blood or 10 mL amniotic fluid

Billing Information

CPT Code
Pro Fee Code

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Our High Standard

Quality that sets us apart

As the reference laboratory division of Michigan Medicine's Department of Pathology, MLabs shares the institution's commitment to applying established quality principles to clinical laboratory testing. Like other large organizations in complex, consequential fields, we rely on an established approach to monitor quality throughout the testing process.