Cost 
$400.00
TAT 
4 weeks
CPT Code 
81402
81403
Test Code 
1117
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Genes 

Bernard-Soulier Syndrome (BSS) is a severe bleeding disorder characterized by a prolonged bleeding time, thrombocytopenia, and extremely large platelets. Median age of first symptom is around 15 months of age with postvaccination bleeding, nosebleeds, bleeding gums, and/or bleeding following tooth extraction. BSS is caused by mutations in the platelet glycoprotein GP Ib-IX-V complex. This complex is made up of four genes: GPIbα, GPIbβ, GPIX, and GPV. Mutations causing BSS have been described in all these genes excepting GPV. These genes occur on different chromosomes, and GPIbβ is located at 22q11.2. Defects in GPIbβ account for approximately less than 10% of patients with BSS. Patients with a 22q deletion and a mutation in GPIbβ have been reported with 22q deletion syndrome (DiGeorge syndrome) and BSS.