Huntington Disease Analysis HAD

Synonyms	Huntington Chorea HTT
Allscripts (AEHR) Order Name	Huntington Disease Analysis
Sunrise Clinical Manager (SCM) Order Name	Huntington Disease Analysis
EPIC Order Name	Huntington Disease, Molecular Repeat Analysis
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
Result Interpretation Normal alleles: <27 CAG repeats Intermediate alleles: 27-35 CAG repeats Reduced penetrance: 36-39 CAG repeats Full penetrance: >39 CAG repeats An interpretive report will be provided.
Forms	Informed Consent Form Neurology Patient Information Sheet