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Specimen Collection Manual and Test Catalog

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HEREDITARY HEMORRHAGIC TELANGIECTASIA PANEL, GENEDX

Geisinger Epic Procedure Code:  LAB4036    Geisinger Epic ID:  167404
Test Restriction:  ORDER LIMITED TO GENETICS

SPECIMEN COLLECTION
Specimen type: 

EDTA whole blood (preferred) OR 2 buccal swabs


Preferred collection container: 
Alternate collection container: 
3 mL lavender-top (K2 EDTA) tube
Specimen required: 

2-5 mL EDTA whole blood OR 2 buccal swabs



SPECIMEN PROCESSING
Transport temperature: 

Refrigerated.


Specimen stability: 

Refrigerated: 7 days.



TEST DETAILS
CPT code(s):  81405 x2, 81406 x2, 81479x3
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: 

ACVRL1, ENG, GDF2, RASA1, SMAD4


Methodology: 
Deletion/Duplication Analysis
Next Generation Sequencing
Synonyms: 

GeneDx 697,HHT


Clinical significance: 

Confirmation of a clinical diagnosis in symptomatic individuals. Identification of individuals at-risk for developing the disease. Recurrence risk assessment


Doctoral Director(s): 
Randin Nelson MD
Review Date:  12/16/2024

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