Hypoparathyroidism is characterized by deficient or inappropriately low parathyroid hormone secretion, resulting in hypocalcemia and hyperphosphatemia. Related inherited disorders may also impair parathyroid development, calcium sensing, or parathyroid hormone action.

This panel includes genes associated with isolated and syndromic hypoparathyroidism, pseudohypoparathyroidism and related hormone-resistance disorders, and other inherited disturbances of calcium-phosphate homeostasis.

This panel is recommended for patients with unexplained hypocalcemia and low or inappropriately normal parathyroid hormone concentrations, particularly in the setting of early-onset disease, syndromic features, or a family history suggestive of an inherited disorder of calcium or parathyroid regulation.