Reference IntervalNormal range/expected value(s) for a specific disease state. May also include abnormal ranges.
By report
Interpretive DataBackground information for test. May include disease information, patient result explanation, recommendations, details of testing, associated diseases, explanation of possible patient results.
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)
NoteAdditional information related to the test.
Diagnostic test for individuals suspected to have a telangiectasia syndrome but no mutation in ACVRL1, ENG or SMAD.
Hotline History
N/A
CPT CodesThe American Medical Association Current Procedural Terminology (CPT) codes published in ARUP's Laboratory Test Directory are provided for informational purposes only. The codes reflect our interpretation of CPT coding requirements based upon AMA guidelines published annually. CPT codes are provided only as guidance to assist clients with billing. ARUP strongly recommends that clients confirm CPT codes with their Medicare administrative contractor, as requirements may differ. CPT coding is the sole responsibility of the billing party. ARUP Laboratories assumes no responsibility for billing errors due to reliance on the CPT codes published.
* 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.
AliasesOther names that describe the test. Synonyms.
Chat
Feedback
