Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Deletion/Duplication (INACTIVE as of 05/15/17: Refer to 0051382)
Ordering Recommendation

This is a second tier test and REQUIRES PERMISSION from ARUP's Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing and deletion/duplication test.

Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Within 14 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data
Background Information for Telangiectasia, Hereditary Hemorrhagic (ACVRL1 or ENG) Deletion/Duplication
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 endoglin (ENG), the activin A receptor type II-like 1 (ACVRL1 or ALK1), SMAD4 and other unidentified gene(s).
Clinical Sensitivity:
Approximately 10 percent of HHT is caused by large deletions or duplications in either the ACVRL1 or ENG genes.
Methodology: Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large ENG and ACVRL1 deletions/duplications; oligonucleotide probes cover all ENG and ACVRL1 coding exons.
Analytical Sensitivity: 90 pecent
Analytical Specificity: 98 percent
Limitations: Diagnostic errors can occur due to rare sequence variations. Deletion/duplication breakpoints cannot be determined. Single base pair substitutions and small deletion/duplication mutations will not be detected.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Component Test Code*Component Chart NameLOINC
0051347HHT ENG
0051349HHT ACVRL1
0051387HHT Deletion/Duplication Interpretation
2001354HHT DELDUP 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 Deletion/Duplication
  • HHT
  • HHT duplication/deletion assay