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Bernard-Soulier Syndrome Panel
Clinical Genetic Test
Help
offered by
Versiti Diagnostic Laboratories
View lab's test page
LinkOut
GTR Test Accession: Help GTR000521848.7
NYS CLEP
INHERITED DISEASEHEMATOLOGYSYNDROMIC DISEASE ... View more
Last updated in GTR: 2022-10-25
View version history
Last annual review date for the lab: 2024-11-15 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation
Conditions (2): Help
Bernard Soulier syndrome; Pseudo von Willebrand disease
Genes (3): Help
GP1BA (17p13.2); GP1BB (22q11.21); GP9 (3q21.3)
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Comparative Genomic Hybridization; ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis; Predictive risk information for patient and/or family members
Ordering Information
Offered by: Help
Versiti Diagnostic Laboratories
View lab's website
View lab's test page
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Chorionic villi
  • Cord blood
  • Isolated DNA
  • Peripheral (whole) blood
  • White blood cell prep
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
4880
View other test codes
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
    OrderCode: 1290
Genetic counseling
Result interpretation
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test, Test strategy
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Comparative Genomic Hybridization
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Predictive risk information for patient and/or family members
View citations (1)

Recommended fields not provided:
Clinical validity, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
Bernard-Soulier Syndrome (BSS) is a rare inherited bleeding disorder due to absence or dysfunction of the platelet glycoprotein receptor Ib/V/IX complex. Laboratory evaluation typically reveals mild to moderate thrombocytopenia, unusually large platelets and abnormal platelet function with absent or markedly reduced aggregation response to ristocetin. Flow cytometric analysis generally demonstrates … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity is approximately 99%. Clinical sensitivity will be highest in patients with a phenotype consistent with the disorder. A positive test result confirms a diagnosis of BSS. Heterozygous carriers may be affected. A negative test results argues strongly against a diagnosis of BSS.
Assay limitations: Help
The method detects nucleotide base alterations, small deletions and insertions within the regions analyzed. Large deletions and duplications have not been described in this disorder and are not detected by this assay. Rare sequence variations in primer binding sites may interfere with mutation detection.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
NYS CLEP Approval: Help
Number: 68479
Status: Approved
Additional Information

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