Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Glycoprotein 1b is a receptor exposed on the surface of platelets where it binds von Willebrand factor. Mutations can cause the autosomal recessive or dominant form of Bernard-Soulier syndrome. Genetic variations of this gene have also been associated with nonarteritic anterior ischemic optic neuropathy.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Genomic sequencing of the entire coding region |
| Turnaround | 10 days | |
| Specimen type | genomic DNA |
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