Diagnostic test for individuals suspected to have a telangiectasia syndrome without a mutation in the ACVRL1, ENG, or SMAD4 gene.
Polymerase Chain Reaction/Sequencing
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Background Information for BMP9/GDF2 Sequencing:
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.
Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Diagnostic test for individuals suspected to have a telangiectasia syndrome but no mutation in ACVRL1, ENG or SMAD.
|Component Test Code*||Component Chart Name||LOINC|
|2010016||BMP9/GDF2 Sequencing Specimen|
|2010017||BMP9/GDF2 Sequencing Interp|
- ACVRL1, ENG
- Hereditary Hemorrhagic Telangiectasia