Canavan Disease Mutation Analysis (Sendout)
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.
- Forms & Requisitions
- Mayo Clinic Laboratories Molecular Genetics: Hereditary Custom Gene Panel Patient Information Form
- Synonyms
- ASPA gene, Aspartoacylase deficiency, Canavan's Disease
Interpretation
- Method
Sequence Capture and Next-Generation Sequencing (NGS)/Polymerase Chain Reaction (PCR), Sanger Sequencing and/or Multiplex Ligation-Dependent Probe Amplification (MLPA)
- 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
- Mayo Clinic Laboratories Molecular Genetics: Hereditary Custom Gene Panel Patient Information Form
- 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
- Processing
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.
Performance
- LIS Dept Code
- Performing Location(s)
-
Sendout Mayo Clinic Laboratories
800-533-1710200 First Street Southwest
Rochester, MN 55901 - Frequency
- Performed: Varies. Report Available: 4-5 weeks.
- Available STAT?
- No
Billing & Coding
- CPT codes
- LOINC