Test Overview
Polymerase Chain Reaction
Molecular confirmation of clinically suspected cases of Huntington disease (HD). Presymptomatic testing for individuals with a family history of HD and a documented expansion in the HTT gene
Normal alleles: <27 CAG repeats
Intermediate alleles: 27-35 CAG repeats
Reduced penetrance: 36-39 CAG repeats
Full penetrance: >39 CAG repeats
An interpretive report will be provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Test Details
8 - 12 days
Specimen Requirements
Collect specimen in lavender or yellow top tube. Invert several times to mix. Send to Specimen Processing at ambient temperature. Specimen preferred to arrive at Mayo within 96 hours of collection.
Specimen preferred to arrive at Mayo within 96 hours of collection.
Additional Information
Test performed by Mayo Clinic Laboratories