Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing
0051381
 
Ordering Recommendation
Alternate test when clinical/family history is classic for HHT, but this test does not detect large duplications/deletions.
Mnemonic
HHT-FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
28-35 days
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report
Interpretive Data
Background Information for Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing
Characteristics:
Recurrent nosebleeds, telangiectases (mouth, face, hands, GI tract), arteriovenous malformations (lung, brain, liver, spine).
Incidence:
1:5,000-10,000
Inheritance:
Autosomal dominant
Penetrance:
Approaches 100 percent by age 40.
Cause:
Mutations in the endoglin (ENG), activin A receptor type II-like 1 (ACVRL1 or ALK1), SMAD4 or other unidentified gene(s).
Clinical Sensitivity:
Approximately 75 percent
Methodology:
: Bidirectional sequencing of ENG and ACVRL1 - all exons and exon/intron boundaries, including the 5' untranslated region of ENG.
Analytic Sensitivity and Specificity:
99 percent
Limitations:
Diagnostic errors can occur due to rare sequence variations. Regulatory region and intronic mutations, large deletions/duplications, and mutations in genes other than ENG and ACVRL1 will not be detected.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
Note
CPT Code(s)
81406 (ENG), 81479
Components
Component Test Code*Component Chart Name
0051575HHT, Sequencing
2001357HHT, Sequencing - Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, contact interface support at interface.support@aruplab.com.
Cross References