Huntington Disease Mutation Analysis [10247X]

Test Code

CPT Codes
81271<br /> **This code is for non-New York State clients only. For New York patient testing, use Test Code 14871X**

Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube

Minimum Volume
3 mL

Other Acceptable Specimens
Whole blood collected in: EDTA (royal blue-top), sodium heparin (green-top) or ACD solution A (yellow-top) tube

Whole blood: Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
Extracted DNA: Please call 1-866-GENE-INFO (1-866-436-3463) for additional information.

Waiver signed by the referring health care 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-GENEINFO (866-436-3463) before specimen collection.

Note to Business Units: Do not reject specimen if the waiver is not received. Forward samples to Quest Diagnostics Nichols Institute SJC and fax the waiver to the referring physician with instructions that it must be completed and faxed back to Quest Diagnostics Nichols Institute SJC (to the number on the waiver) within 4 days of blood draw.

Transport Temperature
Room temperature

Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

Capillary Gel Electrophoresis • Fluorescent Polymerase Chain Reaction

FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule
Set up: Wed a.m.; Report available: 14 days

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).

Reference Range
See Laboratory Report

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.

Performing Laboratory

Quest Diagnostics Nichols Inst San Juan Capistrano
33608 Ortega Highway
San Juan Capistrano, CA 92690-6130

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.