Huntington Disease, Molecular Repeat Analysis Build info

Synonyms

  • HUNTINGTON DISEASE
  • HAD
  • LAB1802

Short Name

HUNTINGTON D

Procedure Master Number

LAB1802

Procedure ID

67478

Clinical Info

 Molecular confirmation of clinically suspected cases of Huntington disease (HD)   Presymptomatic testing for individuals with a family history of HD and a     documented expansion in the HTT gene

Specimen Type

Blood

Container

Lavender Top Tube

Collection Instructions

Container/Tube: Lavender Top (EDTA) Tube or Yellow ACD
Specimen: 3 mL whole blood 1 mL min)  Send original tube  DO NOT ALIQUOT
Required: Informed Consent Form and Neurology Patient Information Sheet (See Forms) or a recent clinical note
                 Testing will not be performed if we do not have this information.

Transport Instructions

Room Temperature

Specimen Stability

Specimens preferred to arrive within 4 days of collection.
Extraction will be attempted for specimens received after 4 days , and
DNA yield will be evaluated  to determine if testing can proceed.
Testing may be cancelled if DNA requirements are inadequate.

Methodology

Polymerase Chain Reaction (PCR)

Days Performed

TAT 8 - 14 Days

Performing Laboratory

Mayo Medical Laboratories

CPT

81271
LOINC Code: 21763-8

PDM

225700

Results
Component Name Base Name Common Name External Name
HUNTINGTON DISEASE ANALYSIS RESULT SUMMARY HDA HDA, SUMMARY Huntington Disease Analysis Result Summary
HUNTINGTON DISEASE ANALYSIS RESULT HDA HDA, RESULT Huntington Disease Analysis Result
REFERRAL REASON REFRSON REFERRAL REASON Referral Reason
HUNTINGTON DISEASE ANALYSIS SOURCE SOURCE SOURCE, SOURCE
HUNTINGTON DISEASE ANALYSIS INTERPRETATION INTERP HUNTINGTON DISEASE ANALYSIS INTERPRETATION Huntington Disease Analysis Interpretation
RELEASED BY RELEASEDBY RELEASED BY Released By
SPECIMEN SPECIMEN SPECIMEN Specimen