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Test ID: HHTP    
Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1 Full Gene Analysis

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Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

81405-ENG (endoglin) (eg, hereditary hemorrhagic telangiectasia, type 1), duplication/deletion analysis

81406-ENG (endoglin) (eg, hereditary hemorrhagic telangiectasia, type 1), full gene sequence

81479-ACVRL1 (unlisted molecular pathology procedure)

LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.

Result IDReporting NameLOINC Code
31719ENG and ACVRL1, Large Del/DupIn Process
31056ENG and ACVRL1 Result53837-1
HHTSQHHT Gene SequencingIn Process
31057ENG and ACVRL1 Interpretation69047-9
31058ENG and ACVRL1 Reviewed byN/A

LOINC and CPT codes are provided by the performing laboratory.