ARUP's Laboratory Test Directory

von Willebrand Disease, Platelet Type (GP1BA) 4 Mutations : 2005476
[ image for: Patient History for von Willebrand (VWD) Testing]
Patient History for von Willebrand (VWD) Testing
[ image for: Additional Technical Information]
Additional Technical Information


Mnemonic: GP1BA SEQ

Ordering Recommendation: Molecular testing to distinguish von Willebrand disease (vWD) type 2B from pseudo (platelet-type) vWD.
Methodology: Polymerase Chain Reaction/Sequencing/Fragment Analysis
Performed: Varies
Reported: Within 21 days
Specimen Required: Collect: Lavender (EDTA), pink (K2EDTA) or yellow (ACD Solution A or B).

Specimen Preparation: Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature: Refrigerated.

Stability (collection to initiation of testing): Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval:
By report
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.

See Compliance Statement C: www.aruplab.com/CS
CPT Code(s): 81400
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)