Reference Interval:
By report
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| Interpretive Data: |
Background Information for Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication
Characteristics: Recurrent nosebleeds, telangiectases (mouth, face, hands, GI tract), and 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), activin A receptor type II-like 1 (ACVRL1 or ALK1), SMAD4 or other unidentified gene(s).
Clinical Sensitivity: Approximately 85 percent
Methodology: Bidirectional sequencing of ENG and ACVRL1 coding regions and exon/intron boundaries; Multiplex Ligation-dependent Probe Analysis (MLPA) to detect large ENG and ACVRL1 gene deletion/duplication; oligonucleotide probes cover all ENG and ACVRL1 coding exons.
Analytic Sensitivity: 99 percent for sequencing and 90 percent for MLPA.
Analytic Specificity: 99 percent for sequencing and 98 percent for MLPA.
Limitations: Rare diagnostic errors can occur due to primer and probe site mutations. The breakpoints of large deletions/duplication cannot be determined Regulatory region, intronic mutations, 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.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
Sequencing: 83891 Isolation; 83898 x23 Amplification; 83904 x23 Sequencing; 83909 x2 Capillary electrophoresis; Del/Dup: 83896 x2 Nucleic Acid Probes; 83898 x2 Amplification; 83914 x2 Extension; 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) Sequencing & Deletion/Duplication)
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