Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing
Ordering Recommendation

Alternate test when clinical/family history is classic for HHT, but this test does not detect large duplications/deletions.

Polymerase Chain Reaction/Sequencing
28-35 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information for Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing
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.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Hotline History
Component Test Code*Component Chart NameLOINC
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, please click the sidebar link to access the Interface Map.
  • ACVRL1 and ENG sequencing
  • HHT sequencing