Telangiectasia Syndrome (BMP9/GDF2) Sequencing

2010015
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Patient History for BMP9-Related Telangiectasia Syndrome Testing

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Additional Technical Information
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

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 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.

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

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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