Reference Interval:
By report
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| Interpretive Data: |
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: Rare diagnostic errors can occur due to primer site mutations. 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.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
83891 Isolation; 83898 x8 Amplification; 83904 x8 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report -Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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Cross References: |
VWF2M Sequencing
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