Telangiectasia Syndrome (BMP9/GDF2) Sequencing
2010015
Ordering Recommendation
Diagnostic test for individuals suspected to have a telangiectasia syndrome without a mutation in the ACVRL1, ENG, or SMAD4 gene.
Mnemonic
BMP9 FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 28 days  
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
  
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report  
Interpretive Data
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).
Prevalence:
Unknown.
Inheritance:
Autosomal dominant.
Penetrance:
NA.
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.





See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
Note
Diagnostic test for individuals suspected to have a telangiectasia syndrome but no mutation in ACVRL1, ENG or SMAD.
CPT Code(s)
81479
Components
Component Test Code*Component Chart Name
2010016BMP9/GDF2 Sequencing Specimen
2010017BMP9/GDF2 Sequencing Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • ACVRL1, ENG
  • Hereditary Hemorrhagic Telangiectasia