Infantile Hypercalcemia Type 1

TEST CODE MG08730
TEST NAME Infantile Hypercalcemia Type 1
RELATED GENE CYP24A1
SYNONYMOUS CYP24A1
OMIM 126065
HEREDITY Autosomal Recessive
CLINICAL AREA Infantile Hypercalcemia Type 1 is an Autosomal Recessively inherited disease. Mutations in the CYP24A1 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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