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Specimen Collection Manual and Test Catalog

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HUNTINGTON DISEASE MUTATION ANALYSIS

Geisinger Epic Procedure Code:  LAB2500    Geisinger Epic ID:  19730
Test Restriction:  ORDER LIMITED TO GENETICS AND NEUROLOGY

SPECIMEN COLLECTION
Specimen type: 

Whole blood


Preferred collection container: 
Alternate collection container: 
4 mL green/green-top (sodium heparin) tube
Specimen required: 

5 mL whole blood; minimum 3 mL.


Special notes: 

Available Monday through Thursday only. Attached waiver must be completed, signed by physician, and sent to Quest for testing to be completed.



SPECIMEN PROCESSING
Processing instructions: 

Do not centrifuge or aliquot. Avoid freezing. Ship within 24 hours, Monday - Thursday only.


Transport temperature: 

Room temperature.


Specimen stability: 

Room temperature: 8 days. Refrigerated: 8 days. Frozen: Unacceptable.


Rejection criteria: 

Stability limits exceeded. Specimens received frozen.



TEST DETAILS
Additional information: 

14-21 day turnaround time.


CPT code(s):  81271
Note: The billing party has sole responsibility for CPT coding.  Any questions regarding coding should be directed to the payer being billed.
The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.

Test includes: 

CAG triplet repeat expansion in the IT15 gene.


Methodology: 
Capillary Gel Electophoresis
Fluorescent Polymerase Chain Reaction
Synonyms: 

HUN, Quest 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.


Doctoral Director(s): 
Randin Nelson MD
Review Date:  12/19/2024

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