Familial Hypocalciuric Hypercalcemia
TEST CODE | MG00480 |
TEST NAME | Familial Hypocalciuric Hypercalcemia |
RELATED GENE | CASR |
SYNONYMOUS | CASR |
OMIM | 601199/145980 |
HEREDITY | Autosomal Dominant |
CLINICAL AREA | Familial Hypocalciuric Hypercalcemia (HHC1) 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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