Bernard-Soulier Syndrome via the GP9 Gene
Use
This test is designed for individuals who have clinical indications or a suspected diagnosis of Bernard-Soulier syndrome. It is also suitable for reproductive partners of individuals known to have a pathogenic variant in the GP9 gene. The test aids in confirming the diagnosis and can help guide clinical management.
Special Instructions
The test utilizes Next-Generation Sequencing (NGS) with CNV analysis on either an exome or genome platform, depending on the specimen submitted. Options such as Exome-Wide CNV Analysis and STAT Testing are available as additional services.
Limitations
While NGS and CNV technologies provide comprehensive insights, limitations may include a potential for incomplete coverage of some genomic regions. Variants outside of the GP9 gene will not be detected unless exome-wide analysis is specifically requested. Detection of low-level mosaicism and very small deletions/duplications may be challenging.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided