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Test ID: HHTM    
Hereditary Hemorrhagic Telangiectasia, ENG and ACVRL1 Large Deletion/Duplication, Molecular Analysis

Useful For Suggests clinical disorders or settings where the test may be helpful

Aiding in the diagnosis of hereditary hemorrhagic telangiectasia, types 1 and 2

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.


Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

ENG and ACVRL1, Large Del/Dup

Aliases Lists additional common names for a test, as an aid in searching

Activin A Receptor, Type II-Like I
ALK1 Gene
Arteriovenous Malformations (AVM)
AVM (Arteriovenous Malformations)
ENG Gene
Hereditary Hemorrhagic Telangiectasia (HHT)
HHT (Hereditary Hemorrhagic Telangiectasia)
ORW (Osler-Rendu-Weber) Disease
Osler-Rendu-Weber (ORW) Disease
Osler-Weber-Rendu (OWR) Disease
OWR (Osler-Weber-Rendu) Disease