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
Not provided.
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
GP9
Gene
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