GTR Home > Tests > GPIbß deletion/duplication analysis


Test name


GPIbß deletion/duplication analysis

Purpose of the test


This is a clinical test intended for Help: Diagnosis, Monitoring, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening



1 condition tested. Click Indication tab for more information.


Molecular Genetics
DDeletion/duplication analysis
Comparative Genomic Hybridization

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.


Clinical validity


BSS is caused by mutations in the platelet glycoprotein GP Ib-IX-V complex, which is the platelet receptor for von Willebrand factor. This complex is made up of four genes: GPIba, GPIbß, GPIX, and GPV. Mutations causing BSS have been described in all these genes excepting GPV. These genes occur on different chromosomes, and GPIbß is located at 22q11.2. Defects in GPIbß account for approximately less than 10% of patients with BSS. Patients with a 22q deletion and a mutation in GPIbß have been reported with 22q deletion syndrome (DiGeorge syndrome) and BSS. The GPIbß gene is involved in correct assembly and cell surface targeting of the GPIbV/IX complex.

  • 1. Lopez JA, et al. “Bernard-Soulier syndrome”. (1998) Blood. 91(12):4397-418. 2. Lanza F. “Hemorrhagiparous Thrombocytic Dystrophy”. (2003). Orphanet Encyclopedia. <>. 3. Yagi M, et al. “Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ibß”. (1994) J Biol Chem 269:17424-7. 4. Budarf ML, et al. “Identification of a patient with Bernard-Soulier syndromeand a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2”. (1995) Hum Mol Genet 4:763-6.

Clinical utility


Establish or confirm diagnosis


How to order


•All samples should be shipped via overnight delivery at room temperature. •No weekend or holiday deliveries. •Label each specimen with the patient’s name, date of birth and date sample collected. •Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
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Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Deletion/Duplication Testing
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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