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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