Reference IntervalNormal range/expected value(s) for a specific disease state. May also include abnormal ranges.
By report
Interpretive DataBackground information for test. May include disease information, patient result explanation, recommendations, details of testing, associated diseases, explanation of possible patient results.
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: Pathogenic variants 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 the coding regions and intron-exon boundaries of ENG and ACVRL1, the 5' untranslated region of ENG, and a region of ACVRL1 intron 9 encompassing the CT-rich variant hotspot region. 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 Category
Laboratory Developed Test (LDT)
NoteAdditional information related to the test.
Hotline History
N/A
CPT CodesThe American Medical Association Current Procedural Terminology (CPT) codes published in ARUP's Laboratory Test Directory are provided for informational purposes only. The codes reflect our interpretation of CPT coding requirements based upon AMA guidelines published annually. CPT codes are provided only as guidance to assist clients with billing. ARUP strongly recommends that clients confirm CPT codes with their Medicare administrative contractor, as requirements may differ. CPT coding is the sole responsibility of the billing party. ARUP Laboratories assumes no responsibility for billing errors due to reliance on the CPT codes published.
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AliasesOther names that describe the test. Synonyms.
ACVRL1 and ENG sequencing
HHT sequencing
Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing (INACTIVE as of 02/16/21)
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