Diagnostic test for individuals suspected to have a telangiectasia syndrome without a mutation in the ACVRL1, ENG, or SMAD4 gene.
- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Characteristics: Telangiectases (blanching pink to red vascular lesions) of the hands, mouth, face, limbs and trunk. Epistaxis (recurring nosebleeds).
Inheritance: Autosomal dominant.
Cause: Pathogenic BMP9/GDF2 gene mutations.
Clinical Sensitivity: BMP9/GDF2 mutations detected in ~1 percent of individuals suspected to have a hereditary telangiectasia syndrome, but with no mutation in the ACVRL1, ENG or SMAD4 genes.
Methodology: Bidirectional sequencing of the entire BMP9 coding region and intron-exon boundaries.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2010016||BMP9/GDF2 Sequencing Specimen|
|2010017||BMP9/GDF2 Sequencing Interp|
- ACVRL1, ENG
- Hereditary Hemorrhagic Telangiectasia