Bernard-Soulier Syndrome and Autosomal Dominant Macrothrombocytopenia via the GP1BB Gene

Summary and Pricing

Test Method

Bi-Directional Sanger Sequencing
Sanger Sequencing
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
434 GP1BB 81404 81404 $490 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
434GP1BB81404 $490 Order Options and Pricing

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

12 days on average


Genetic Counselors


Test Method

Deletion/Duplication Testing via Array Comparative Genomic Hybridization
CNV via aCGH
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
600 GP1BB 81479 81479 $690 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
600GP1BB81479 $690 Order Options and Pricing

Pricing Comments

# of Genes Ordered

Total Price









Over 100

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A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

Turnaround Time

20 days on average


Genetic Counselors


Clinical Features and Genetics

Clinical Features

Bernard-Soulier syndrome (BSS) (OMIM 231200) (also sometimes called giant platelet syndrome) is a bleeding disorder characterized by mild to severe thrombocytopenia with large platelets. Onset is typically in infancy or childhood. Common bleeding problems include purpura, nose bleeds, gingival bleeding, and menorrhagia. BSS is caused by defects in the von Willebrand factor receptor on the platelet cell surface. Platelet-type or pseudo von Willebrand’s disease and benign Mediterranean macrothrombocytopenia are variants of BSS (Balduini et al. Haematologica 87:860-880, 2002). BSS is sometimes misdiagnosed as immune (idiopathic) thrombocytopenic purpura (ITP) (Kunishima et al. Eur J Haematol 76:348-355, 2006).


Bernard-Soulier syndrome (BSS) is an autosomal recessive disorder, although carriers of a single causative variant may have large platelets and mild bleeding problems. Occasionally, the symptoms in carriers are so strong that families display dominant inheritance (Savoia et al. Blood 97:1330-1335, 2001). The von Willebrand factor receptor has four glycoprotein (GP) subunits: GPIbα, GPIbβ, GPIX, and GPV encoded respectively by the GP1BA, GP1BB, GP9, and GP5 genes. Causative variants have been identified to date in all of these genes except GP5. Missense and nonsense variants predominate in cases of BSS, though small and large deletions and regulatory variants have also been reported in all BSS genes (see Lanza 2006). In addition, the Di George/velocardiofacial 22q11.2 deletions often include the GP1BB gene (see Budarf et al. Hum Mol Genet 4:763-766, 1995; and McDonald-McGinn et al.).

Testing Strategy

This test involves bidirectional DNA sequencing of the full coding regions of the GP1BB gene. About 20 bp of flanking non-coding DNA on either side of each exon are included. We will sequence the gene in relatives of affected children in cases where DNA from the children is unavailable. We will also sequence any single exon (Test #100) or pair of exons (Test #200) in family members of patients with known variants or to confirm research results.

Clinical Sensitivity - Sanger Sequencing

Sensitivity of this test is unknown.  This test will not detect the deleted allele in patients carrying the DiGeorge/velocardiofacial 22q11.2 deletion.

Indications for Test

All patients with symptoms of BSS and their family members are candidates for this test.


Official Gene Symbol OMIM ID
GP1BB 138720
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Bernard Soulier Syndrome AR 231200

Related Tests

Bernard-Soulier Syndrome via the GP1BB Gene
Bernard-Soulier Syndrome via the GP9 Gene


  • Balduini, C. L., (2002). "Inherited thrombocytopenias: from genes to therapy." Haematologica 87(8): 860-80. PubMed ID: 12161364
  • Budarf, M. L., (1995). "Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2." Hum Mol Genet 4(4): 763-6. PubMed ID: 7633430
  • Donna M McDonald-McGinn, (2005). "22q11.2 Deletion Syndrome."
  • Kunishima, S., (2006). "Novel heterozygous missense mutation in the second leucine rich repeat of GPIbalpha affects GPIb/IX/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura." Eur J Haematol 76(4): 348-55. PubMed ID: 16519708
  • Lanza, F. (2006). "Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)." Orphanet J Rare Dis 1: 46. PubMed ID: 17109744
  • Savoia, A., (2001). "Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome." Blood 97(5): 1330-5. PubMed ID: 11222377


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
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Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

Specimen Types

Specimen Requirements and Shipping Details

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