Huntington Disease Mutation

Test Overview

Test Methodology

Amplification of DNA to evaluate trinucleotide repeats.

Test Usage

To confirm the diagnosis of Huntington\'s disease or in the evaluation of related neurodegenerative disorders through the analysis of the allele size of the CAG repeat in the Huntington gene.

Reference Range *

Normal (10-26 repeats), premutation (27-35 repeats) or affected (36 repeats or greater). Interpretive report provided.

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Test Details

Days Set Up

Monday

Analytic Time

7 - 14 days

Soft Order Code

HUNTD

MiChart Code

Huntington Disease Mutation Genetics, Screening (Sendout)

Laboratory

Sendout

Reference Laboratory

Fairview Diagnostic Laboratories

Section

Special Testing

Specimen Requirements

Collection Instructions

Collect specimen in a yellow top (ACD) solution A (preferred) or lavender top tube. Send intact specimen refrigerated. Specimen must be accompanied by patient consent form available from MLabs. Both symptomatic and presymptomatic testing requires a signed informed consent form. Patient must be at least 18 years of age.

Normal Volume

10 mL ACD (preferred) or EDTA whole blood

Minimum Volume

2 mL ACD (preferred) or EDTA whole blood

Additional Information

Test sent to Fairview Diagnostic Laboratories.

Billing

CPT Code

81401

Fee Code

22005

LOINC

21763-8