Macrothrombocytopenia

TEST CODE MG05280
TEST NAME Macrothrombocytopenia
RELATED GENE MYH9
SYNONYMOUS MYH9
OMIM 155100
HEREDITY Autosomal Recessive
CLINICAL AREA Macrothrombocytopenia is an autosomal dominantly inherited disease. Mutations in the MYH9 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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