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Huntington disease mutation analysis

Lab Section:  Sendout Reference  
Lab Location:  Sendout
Reference Lab: Quest 
Test ID: LAB2254 
Methodology: Fluorescent Polymerase Chain Reaction; Capillary Gel Electrophoresis
Schedule: Wednesdays
Reported: 2 weeks, 2 days
Specimen Requirements:  Collection: 6.0 mL Blood in a Lavender Top Tube.
Pediatric volume: 3 mL.
Whole blood; EDTA (lavender-top) tube or ACD Solution B (yellow-top) tube
Transport: Room temperature.
Unacceptable conditions: Received frozen
Stability: Ambient: 8 days; Refrigerated: 8 days; Frozen: Unacceptable

Notes: 

Clinical Indications: 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.

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. If ordering facility is located in AK, AZ, DE, FL, GA, MA, MN, NV, NH, NJ, NM, NY, OR, SD or VT or test is performed in MA, a physician attestation of informed consent (PAIC) waiver is required and will meet the test specific waiver requirements. Waivers not received within 8 days from draw will result in test cancellation. Call 866-GENEINFO (866-436-3463) for a copy of the test specific and or PAIC waiver. For patients under the age of 18, please call (866-436-3463) before specimen collection.

Reference Interval:  See patient report or consult reference laboratory website.
CPT Code(s): 81401
Last Changed: 11/11/2016 10:04:21
Last Reviewed: 12/22/2016 01:45:04