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 von Willebrand Disease, Type 2M (VWF) Sequencing: Characteristics: Mucocutaneous bleeding after brushing or flossing teeth, unexplained bruising, prolonged repeated nosebleeds, menorrhagia, and prolonged bleeding following childbirth, trauma or surgery. Incidence: Approximately 1 in 100 to 1 in 1000 individuals. Inheritance: Autosomal dominant for type 2M. Penetrance: Dominant mutations are incompletely penetrant when VWF:Ag and VWF:RCo levels are 25-50 IU/dL. Full penetrance is expected when VWF:Ag and VWF:RCo levels are less than 25 IU/dL. Cause: Pathogenic VWF mutations in exons 28, 30, and 31. Clinical Sensitivity: 80 percent for vWD types 2A, 2B, and 2M; unknown for other vWD subtypes. Methodology: Bidirectional sequencing of VWF exons 28, 30, 31 and its 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 deletion/duplications will not be detected. Mutations lying outside of VWF exons 28, 30, and 31 will not be evaluated.
Compliance Category
Laboratory Developed Test (LDT)
NoteAdditional information related to the test.
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.
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AliasesOther names that describe the test. Synonyms.
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