Calcium Sensing Receptor Mutation

TEST CODE MG00720
TEST NAME Calcium Sensing Receptor Mutation
RELATED GENE CASR
SYNONYMOUS CASR
OMIM 601199
HEREDITY Autosomal Dominant
CLINICAL AREA Hypocalciuric hypercalcemia is an autosomal dominantly inherited disease. Mutations in the CASR 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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