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 (HHT), 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 ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| HHTS | ENG and ACVRL1, Full Gene Analysis | No | Yes |
| HHTSQ | HHT Gene Sequencing | No | Yes |
| EALDD | ENG and ACVRL1, Large Del/Dup | No | Yes |
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
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
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