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

Secondary ID A test code used for billing and in test definitions created prior to November 2011

89394

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

Conditional

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

Profile Information A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.

Test IDReporting NameAvailable SeparatelyAlways Performed
HHTSENG and ACVRL1, Full Gene AnalysisNoYes
HHTSQHHT Gene SequencingNoYes
EALDDENG and ACVRL1, Large Del/DupNoYes

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

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis and Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

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

ENG and ACVRL1, Full Gene Analysis

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

Activin A Receptor, Type II-Like I
ACVRL1 Gene
ALK1 Gene
Arteriovenous Malformations (AVM)
AVM (Arteriovenous Malformations)
Endoglin
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
Telangiectasia