Huntington Disease Mutation Analysis

Last Modified: 1/21/2019 6:06:48 AM

Client Notes: Waiver signed by the referring healthcare professional must accompany all specimens or be received in the Molecular Genetics Lab (Fax: 949-728-4874) within 4 days of the blood draw. Call 866-GENEINFO (866-436-3463) for a copy of the waiver. For patients under the age of 18, please call (866-436-3463) before specimen collection. 

Fill out this waiver and fax to the above numbers then send copy of waiver with the specimen.
Specimen Requirements: 5.0 mL Whole Blood in a Lavender Top Tube - EDTA
Minimum Volume: 3.0 mL Whole Blood
Transport & Storage: Temperature/Stability: 8 days Ambient
8 days Refrigerated
Rejection Criteria: Frozen
Reference Range: Refer to Interpretive Results
Test Comments: Limitations: The number of CAG repeats does not strongly indicate the onset, severity, or the cognitive ability of the affected person. In some instances, with repeat sizes between 36-39, these alleles may have reduced penetrance and it may not be possible to predict if a currently asymptomatic individual with an allele size in this range will develop symptoms of Huntington disease. This test may not detect very large expansions of the Huntington disease gene (over 105 repeats).
Methodology: Fluorescent Polymerase Chain Reaction - Capillary Gel Electrophoresis
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
Custom Panel: No


Turn Around Time: 15 to 19 days
Days Performed: Wednesday
Sites Performed: Quest - Chantilly to San Juan Capistrano
PHL Test Code: MSOT
EPIC Test Code:
Send Out Test Code: 111991
CPT Coding: 81271

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