Bernard-Soulier Syndrome via the GP1BA Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 8841 | GP1BA | 81479 | 81479,81479 | $990 | 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.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).
Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).
The Sanger Sequencing method for this test is NY State approved.
For Sanger Sequencing click here.Turnaround Time
3 weeks on average for standard orders or 2 weeks on average for STAT orders.
Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.
Targeted Testing
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
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 (Lanza 2006). The middle, coding segment of the GP1BA gene contains 1-4 copies of a near perfect 39 bp repeat (Afshar-Kharghan et al. Blood 103:963-965, 2004). One or more copies of this polymorphic repeated sequence are sometimes presented in databases as an intron. Biologically, however, it is virtually certain that there is no intron within the coding portion of this gene.
Clinical Sensitivity - Sequencing with CNV PGxome
Sensitivity of this test is unknown.
Testing Strategy
This test provides full coverage of all coding exons of the GP1BA 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. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).
Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).
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 GP1BA.
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 GP1BA.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| GP1BA | 606672 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
| Name | Inheritance | OMIM ID |
|---|---|---|
| Bernard Soulier Syndrome | AR | 231200 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant | AD | 153670 |
| Pseudo Von Willebrand Disease | AD | 177820 |
Related Tests
| Name |
|---|
| Bernard-Soulier Syndrome via the GP1BB Gene |
| Bernard-Soulier Syndrome via the GP9 Gene |
Citations
- Afshar-Kharghan, V., et.al. (2004). "The variable number of tandem repeat polymorphism of platelet glycoprotein Ibalpha and risk of coronary heart disease." Blood 103(3): 963-5. PubMed ID: 14592833
- Balduini, C. L., et.al. (2002). "Inherited thrombocytopenias: from genes to therapy." Haematologica 87(8): 860-80. PubMed ID: 12161364
- 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
- Lopez, J. A., et.al. (1998). "Bernard-Soulier syndrome." Blood 91(12): 4397-418. PubMed ID: 9616133
- 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.
- PGnome sequencing panels can be ordered via the myPrevent portal only at this time.
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
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
PGxome (Exome) Sequencing Panel
PGnome (Genome) Sequencing Panel
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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.