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Huntington Disease Mutation

CPT Code(s): 81401

Service Code (IU Health): 53052494

Ordering Recommendation: Diagnostic confirmation in individuals with clinical symptoms of Huntington disease; presymptomatic testing for adults with a positive family history.

Synonyms: Huntington disease, Huntington chorea

Methodology: Triplet repeat primed PCR and capillary electrophoresis. Reflex Southern analysis is performed as a send-out test as needed to further characterize expanded/abnormal alleles.

Performed: Monday through Friday

Reported: 6-9 days

Specimen Requirements

Collect: Lavender-top (EDTA) tubes

Specimen Volume: 2-6 mL whole blood

Storage/Transport: Refrigerated or room temperature

Unacceptable Conditions: Grossly hemolyzed or clotted

Stability: Two weeks refrigerated; One month frozen