Update Type: Test Methodology Changed
Test Updated: 07/14/2021
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

Test Details
Days Set Up
Varies
Analytic Time

4 - 5 weeks

Soft Order Code
MMLR
MiChart Code
Canavan Disease Mutation Detection(Sendout)
Synonyms
  • CANW
  • Canavan Disease Mutation
  • CANP
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. 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
Additional Information

Test sent to Mayo Medical Laboratories.

Billing
CPT Code
81479
Fee Code
AA151
NY State Approved
No