#ExistInterpData>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).
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: Rare diagnostic errors can occur due to primer binding site mutations. 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