Reference Interval:
By report
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| Interpretive Data: |
Background Information for von Willebrand Disease, Type 2N (VWF) Sequencing:
Characteristics: Mucocutaneous bleeding after brushing or flossing teeth, unexplained bruising, prolonged repeated nosebleeds, menorrhagia, and prolonged bleeding following childbirth, trauma or surgery. Symptoms of type 2N are similar to mild hemophilia A.
Incidence: Approximately 1 in 100 to 1 in 1000 individuals.
Inheritance: Autosomal recessive.
Cause: Pathogenic VWF mutations.
Clinical Sensitivity: Unknown for VWD type 2N.
Methodology: Bidirectional sequencing of VWF exons 4, 9, 17, 18, 19, 20, 21, 24, 25, and 27 and the corresponding 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 4, 9, 17, 18, 19, 20, 21, 24, 25, and 27 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 x10 Amplification; 83904 x10 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: |
VWF2N Sequencing
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![[ image for: Patient History for von Willebrand (VWD) Testing]](icon_85.jpg){kind=icon}