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Test Name:
Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Deletion/Duplication


  • SBMF No:
    44946
  • Performance Lab Name:
    ARUP Laboratories
  • Test Mnemonic:
    HHT DELDUP
  • ABN:
    Required – Not FDA-Approved
  • CPT Code:
    83891; 83896x2; 83898x2; 83909; 83912; 83914x2
  • Ref Lab Test No:
    0051348
  • Also Known As:
    HHT (ACVRL1 and ENG) Deletion/Duplication
  • Also See:
    44947 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing
    44945 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing & Deletion/Duplication
  • Spec Type:
    Whole blood
  • Spec Container:
    Lavender top (EDTA) or pale yellow top (ACD-A or B) tube
  • Pref Vol:
    3.0 mL
  • Min Vol:
    2.0 mL
  • Fasting:
    No
  • Patient Prep:
    Counseling and informed consent are recommended for genetic testing
    Forms required:
    Hereditary Hemorrhagic Telangiectasia Consent Form (Deletion/Duplication Testing)
    Patient History for Hereditary Hemorrhagic Telangiectasia (HHT) Testing
  • Spec Collect:
    Routine venipuncture
  • Spec Process:
    Gently invert tube to mix blood with the anticoagulant
    Do not centrifuge
    Do not remove plasma from cells
    Forward entire tube of unprocessed whole blood to the laboratory
  • Spec Store Transport:
    Refrigerated
  • Spec Stability:
    3 days room temperature (20-30°C)
    1 week refrigerated (2-8°C)
    Frozen (-20°C): Unacceptable
  • Methodology:
    Polymerase Chain Reaction (PCR)
    Multiplex Ligation-dependent Probe
  • Clinical Significance:
    Refer to:
    ARUP Consult | The Physician's Guide to Laboratory Test Selection and Interpretation
  • Reference Range:
    By report

    Interpretive Data:
    Background Information for Telangiectasia, Hereditary Hemorrhagic (ACVRL1 or ENG) Deletion/Duplication
    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 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: Rare diagnostic errors can occur due to probe binding site mutations. Deletion/duplication breakpoints cannot be determined. Single base pair substitutions and small deletion/duplication mutations will not be detected.

  • Additional Test Info:

    Genetic Compliance Statement:
    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.

  • Day Run:
    Sun
  • Time Reported:
    Within 3 weeks
  • Test Type:
    GENETIC

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