Bernard-Soulier Syndrome (BSS), also sometimes called Giant Platelet Syndrome, is a bleeding disorder characterized by mild to severe thrombocytopenia with large platelets. Onset can begin in infancy or childhood. Common bleeding problems include bruising, nose bleeds, gingival bleeding and menorrhagia. BSS is caused by defects in the von Willebrand factor receptor on the platelet cell surface.
BSS is an autosomal recessive disorder. It has been observed that carriers of a single causative mutation may also have large platelets and mild bleeding problems. Occasionally, the carrier symptoms are so strong that families display dominant inheritance.
Methodology: Sequencing of entire coding region
Purpose: Confirmation of Clinical Diagnosis/Carrier testing
ICD-10 code D69.1
Test Requisition: Sequencing Requisition
CPT Codes: 81404 Cost: $396.00
Turn-around-time: 5-6 weeks
1. Lanza F (2006). "Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy)". Orphanet J Rare Dis 16 (1): 46