Reference Interval:
By report
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| Interpretive Data: |
Background Information for von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations:
Characteristics: Mild to moderate mucocutaneous bleeding after brushing or flossing teeth, unexplained bruising, prolonged repeated nosebleeds, menorrhagia, and prolonged bleeding following childbirth, trauma or surgery. Thrombocytopenia may be present and worsen during the stress of severe infection, surgery or pregnancy.
Incidence: Very rare.
Inheritance: Autosomal dominant.
Cause: Pathogenic GP1BA mutations.
Clinical Sensitivity: Unknown.
Methodology: Targeted bidirectional sequencing of the GP1BA gene mutations c.746G>T (p.Gly249Val), c.746G>A (p.Gly249Ser), and c.763A>G (p.Met255Val); PCR followed by fragment analysis of c.1306del27 (p.436_444del9).
Limitations: Rare diagnostic errors can occur due to primer site mutations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected. GP1BA mutations other than the four targeted, 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 x2 Amplification; 83904 Sequencing; 83909 x2 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: |
GP1BA Sequencing (von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations)
, Platelet Type Von Willebrand Disease (vWD) (von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations)
, Pseudo Von Willebrand Disease (vWD) (von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations)
, Von Willebrand Disease (vWD) Platelet Type (von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations)
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