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.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
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