Familial Erythrocytosis Type 5

TEST CODE MG07640
TEST NAME Familial Erythrocytosis Type 5
RELATED GENE EPO
SYNONYMOUS EPO
OMIM 133170
HEREDITY Autosomal Dominant
CLINICAL AREA Familial Erythrocytosis Type 5 is an autosomal dominantly inherited disease. Mutations in the EPO 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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