Hereditary hypoparathyroidism, isolated
March 15 2017
Panel testing recommended at Breda Genetics for this condition: Hereditary hypoparathyroidism, isolated (PTH, GCM2, CASR) Summary Hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. Hypoparathyroidism manifests when parathyroid hormone (encoded by the PTH gene) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations (defective synthesis or secretion) or,