Amegakaryocytic Thrombocytopenia Common Mutation_x000D_ scan

TEST CODE MG00050
TEST NAME Amegakaryocytic Thrombocytopenia Common Mutation_x000D_ scan
RELATED GENE MPL (S505N W515L K39N)
SYNONYMOUS MPL (S505N W515L K39N)
OMIM 604498
HEREDITY Autosomal Recessive
CLINICAL AREA Amegakaryocytic Thrombocytopenia is a disease inherited in an autosomal recessive manner. Mutations in the MPL gene 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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