Huntington Disease Mutation Analysis

Overview

  • EPIC Code:
  • MISC
  • Soft Test Code:
  • MSOT
  • Send Out Test Code:
  • 10247
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


Specimen Collection & Preparation

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


Transport And Storage

8 days Ambient
8 days Refrigerated


Collection Instructions

 


Minimum Volume

3.0 mL Whole Blood


Neonatal Volume

Clinical Interpretation

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


Production Schedule

Sites Performed
  • Quest - Chantilly to San Juan Capistrano
Days Performed
Wednesday
Departments
  • Sendouts - Miscellaneous
Turn Around Time

15 to 19 days


Coding & Compliance

CDM

00913333


CPT Coding

81271 If amniotic fluid or chorionic villi sampling (CVS) is received, then an additional charge will be aded for cell culture workup (CPT code(s): 88235) if not already ordered.