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Geisinger Medical Laboratories Test Catalog
HUNTINGTON DISEASE MUTATION ANALYSIS
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Geisinger Epic Procedure Code: LAB2500
Geisinger Epic ID: 19730
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SPECIMEN COLLECTION |
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Specimen type: |
Whole blood | |
Preferred collection container: |
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Alternate Collection Container: |
4 mL green/green-top (sodium heparin) tube
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Specimen required: |
5 mL whole blood; minimum 3 mL. | |
Special notes: |
Available Monday through Thursday only. Attached waiver must be completed, signed by physician, and sent to Quest for testing to be completed. | |
| SPECIMEN PROCESSING |
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Specimen processing instructions: |
Do not centrifuge or aliquot. Avoid freezing. Ship within 24 hours, Monday - Thursday only. | |
Transport temperature: |
Room temperature. | |
Specimen stability: |
Room temperature: 8 days. Refrigerated: 8 days. Frozen: Unacceptable. | |
Rejection criteria: |
Stability limits exceeded. Specimens received frozen. | |
TEST DETAILS |
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Additional information: |
14-21 day turnaround time. | |
CPT code(s): |
81271 | |
| Note: The billing party has sole responsibility for CPT coding. Any questions regarding coding should be directed to the payer being billed. The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only. | ||
Test includes: |
CAG triplet repeat expansion in the IT15 gene. | |
Methodology: |
Fluorescent Polymerase Chain Reaction Capillary Gel Electophoresis |
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Synonyms: |
HUN, Quest test code 10247
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Clinical significance: |
To confirm the clinical diagnosis of Huntington Disease (HD) in affected individuals; to provide pre-symptomatic predictive diagnosis of HD in individuals with positive family history; to identify individuals at risk of having affected offspring; to provide prenatal diagnosis in appropriate situations. | |