Home
HelpEpic Test Code LAB1802 Huntington Disease Repeat Expansion Test
Additional Codes
Athena Code: 116
Type of Disorder
Movement Disorders
Disease(s) Tested for:
Huntington’s Disease
Specimen Type
Whole Blood
Specimen Requirements
8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 day
Frozen: Unacceptable
Transportation Needs
Room temperature
Test Turnaround
14-28 days
Genes Included
Instructions
Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing.
Reference Values
Normal: >5 and ≤26 CAG trinucleotide repeats
Additional Information
MUST HAVE SIGNED CONSENT
This test requires physician attestation that patient consent has been received
Clinical Significance
Detects CAG triplet repeat expansion in the IT15 gene
Typical Presentation: Chorea and idiopathic behavior change (may not be present in children)
Methodology
Repeat Expansion Detection by PCR, Southern Blot
CPT Code
81271(1)
Last Updated
23-Aug-21