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Huntington Disease Mutation Analysis [10247X]
Test CodeS51314
CPT Codes
81271
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL
Other Acceptable Specimens
Whole blood collected in: Sodium heparin (green-top) tube, or ACD-B (yellow-top) • Bone marrow collected in: ACD-B (yellow-top) tube, or EDTA (lavender-top) tube
Instructions
Waiver signed by the referring health care professional must accompany all specimens. Waiver is available on our website, from LORRA department or Client Relations department.
For patients under the age of 18, please call 866-GENEINFO (866-436-3463) before specimen collection.
For patients under the age of 18, please call 866-GENEINFO (866-436-3463) before specimen collection.
Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days
Refrigerated: 8 days
Methodology
Capillary Gel Electrophoresis • Fluorescent Polymerase Chain Reaction
Setup Schedule
Wed
Report Available
20 to 22 days
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).
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.
