Reference Interval:
By report
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| 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.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
83891 Isolation; 83896 x2 Nucleic Acid Probes; 83914 x2 Extension; 83898 x2 Amplification; 83909 Capillary electrophoresis; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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Cross References: |
HHT (Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Deletion/Duplication)
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