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Geisinger Medical Laboratories Test Catalog
HEREDITARY HEMORRHAGIC TELANGIECTASIA PANEL, GENEDX |
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ORDERING INFORMATION: |
Geisinger Epic Procedure Code: LAB4036 Geisinger Epic ID: 167404 | |
SPECIMEN COLLECTION |
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Specimen type: |
EDTA whole blood (preferred) OR 2 buccal swabs | |
Preferred collection container: |
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Alternate Collection Container: |
3 mL lavender-top (K2 EDTA) tube
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Specimen required: |
2-5 mL EDTA whole blood OR 2 buccal swabs | |
| SPECIMEN PROCESSING |
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Transport temperature: |
Refrigerated. | |
Specimen stability: |
Refrigerated: 7 days. | |
TEST DETAILS |
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CPT code(s): |
81405 x2, 81406 x2 | |
| 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 |
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Synonyms: |
GeneDx 697,HHT
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Clinical significance: |
Confirmation of a clinical diagnosis in symptomatic individuals. Identification of individuals at-risk for developing the disease. Recurrence risk assessment | |