Bernard-Soulier Syndrome via the GP1BB Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
9073 GP1BB 81404 81404,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9073GP1BB81404 81404, 81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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

For Reflex to PGxome pricing click here.

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Targeted Testing

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

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

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).

Genetics

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 provides full coverage of all coding exons of the GP1BB gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Clinical Sensitivity - Sequencing with CNV PGxome

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. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in GP1BB.

Gene

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

Disease

Name Inheritance OMIM ID
Bernard Soulier Syndrome AR 231200

Related Tests

Name
Bernard-Soulier Syndrome via the GP1BA Gene
Bernard-Soulier Syndrome via the GP9 Gene
Bleeding Disorders Panel
Thrombocytopenia Panel

Citations

  • Balduini, C. L., et.al. (2002). "Inherited thrombocytopenias: from genes to therapy." Haematologica 87(8): 860-80. PubMed ID: 12161364
  • Budarf, M. L., et.al. (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, et.al. (2005). "22q11.2 Deletion Syndrome."
  • Kunishima, S., et.al. (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., et.al. (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/Specimens

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.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

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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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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