Test Overview
Test Methodology

Sequence Capture and Next-Generation Sequencing (NGS)/Polymerase Chain Reaction (PCR), Sanger
Sequencing and/or Multiplex Ligation-Dependent Probe Amplification (MLPA)

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.

Test Details
Days Set Up
Varies
Analytic Time

4 - 5 weeks

Soft Order Code
MMLR
MiChart Code
Canavan Disease Mutation Detection(Sendout)
Synonyms
    Laboratory
    Sendout
    Reference Laboratory
    Mayo CGPH
    Section
    Special Testing
    Specimen Requirements
    Collection Instructions

    Collect specimen in sufficient yellow top (ACD) solution A or a lavender top tubes. Send intact whole blood at room temperature.

    Normal Volume
    3 mL whole blood
    Minimum Volume
    0.5 mL whole blood
    Additional Information

    Test sent to Mayo Medical Laboratories.

    Billing
    CPT Code
    81479
    NY State Approved
    No