Bernard Soulier Syndrome Panel
TEST CODE | MG07010 |
TEST NAME | Bernard Soulier Syndrome Panel |
RELATED GENE | GP1BA, GP1BB, GP9 |
SYNONYMOUS | GP1BA, GP1BB, GP9 |
OMIM | x |
HEREDITY | Autosomal Recessive, Autosomal Recessive |
CLINICAL AREA | Bernard Soulier Syndrome (BSS) Panel is a platelet dysfunction with autosomal recessive, autosomal dominant inheritance. Mutations in the disease-related GP1BA, GP1BB, GP9 genes have been associated with the disease. |
METHOD | Next Generation Sequencing |
SAMPLE TYPE | Blood with EDTA |
QUANTITY | 3 ml |
TAT | 40 DAYS |
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