Ordering Recommendation

Diagnostic test for individuals suspected to have a telangiectasia syndrome without a pathogenic variant in the ACVRL1, ENG, or SMAD4 gene.

Mnemonic
BMP9 FGS
Methodology

Polymerase Chain Reaction/Sequencing

Performed

Varies

Reported

21-28 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.

Compliance Category

Laboratory Developed Test (LDT)

Note

Diagnostic test for individuals suspected to have a telangiectasia syndrome but no mutation in ACVRL1, ENG or SMAD.

Hotline History
N/A
CPT Codes

81479

Components
Component Test Code* Component Chart Name LOINC
2010016 BMP9/GDF2 Sequencing Specimen
2010017 BMP9/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
Telangiectasia Syndrome (BMP9/GDF2) Sequencing