Canavan Disease Mutation Analysis (Sendout)

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General Information

Lab Name
Lab Code
188
External Test Id
CGPH
Description

Useful For: Identifying mutations in the ASPA gene associated with Canavan Disease.

Ordering Requirements: Orders for this test must be accompanied by a completed Mayo Molecular Genetics: Hereditary Custom Gene Panel Information Form.

Synonyms
ASPA gene, Aspartoacylase deficiency, Canavan's Disease
Components

Interpretation

Method

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

Reference Range
Interferences and Limitations

A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Ordering & Collection

Specimen Type
Whole Blood
Collection

3 mL blood in LAVENDER TOP (EDTA) or YELLOW TOP (ACD) tube

Invert several times to mix blood.

Forms & Requisitions
Handling Instructions

Outside Laboratories:

  • Transport whole blood at ambient temperature.
  • Submit with a completed Mayo Molecular Genetics: Hereditary Custom Gene Panel Information Form.
  • Samples must arrive at Mayo within 96 hours of collection (allowing for transport time from UW-MT lab to Mayo).

Stability: Ambient (Preferred) 96 hours; Refrigerated: 96 hours; Frozen: Unacceptable.

Quantity
Requested: 3 mL whole blood (EDTA or ACD)
Minimum: 1 mL whole blood (EDTA or ACD

Processing

Receiving Instructions

Store and transport whole blood specimens at ambient temperature.

Login: GSEND1-;RM TEMP

  • GSNDT1: MAYO
  • GSTYP1: WB
  • GTSRQ1: ;Canavan Disease, ASPA Mutation Analysis (Mayo Test CGPH)

Sendouts:

  • Order Mayo Test: CGPH.
    • Specifiy Gene List ID: IEMCP-QG5Q14 (ASPA Gene).
  • Include the completed Mayo Molecular Genetics Form. (Do not delay shipment of specimen. Okay to send with a note in MayoAccess that the form is "to follow.")
  • Whole blood specimens must be received by Mayo within 96 hours of collection.

Stability: Ambient (Preferred) 96 hours; Refrigerated: 96 hours; Frozen: Unacceptable.

Misc Sendout

Performance

Lab Department
Frequency
Performed: Varies. Report Available: 4-5 weeks.
Available STAT?
No
Performing Location(s)
Sendout Mayo Clinic Laboratories
800-533-1710

200 First Street Southwest
Rochester, MN 55901

Billing & Coding