Huntington Disease (HTT) Genetic Testing (Repeat Expansion)

TEST: 620016
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CPT: 81271
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Special Instructions

This assay is not currently available in New York state.

A complete Informed Consent should accompany specimens. See “Related Documents” to download.

Expected Turnaround Time

12 - 14 days

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Documents

For more information, please view the literature below.

Huntington Disease Informed Consent

    Specimen Requirements

    Specimen

    Whole blood

    Volume

    4 mL

    Container

    Lavender-top (EDTA) tube

    Storage Instructions

    Ship at room temperature overnight, but stable up to 5 days post-collection at room temperature. Do not freeze.

    Causes for Rejection

    Frozen blood EDTA tube

    Test Details

    Use

    Huntington disease (HD) is a neurodegenerative disease of mid-life onset that produces choreic movements and cognitive decline, often accompanied by psychiatric changes. The disease is caused by an expansion of the CAG repeats in 3-5 out of 100,000 individuals. However, the prevalence of HD exceeds 15 per 100,000 in some populations, mostly of Western European origin. Juvenile-onset HD occurs in approximately 5% of affected patients, is rapidly progressive, and presents with rigidity, spasticity, and intellectual decline before the age of 20 years. The symptoms result from the selective loss of neurons, most notably in the caudate nucleus and putamen, and there is currently no effective treatment.

    Limitations

    Maximum reportable sizing: 150 repeats.

    This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.

    Methodology

    Repeat-Primed PCR (QP-PCR)

    For Providers

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