Familial hypocalciuric hypercalcemia other diagnostic studies

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q.

Other diagnostic studies helpful in the diagnosis of familial hypocalciuric hypercalcemia are:^[1][2]

• DNA sequencing test
  • Detects the following mutations of CASR gene
    • Point mutations
    • Insertions
    • Rearrangements in the coding sequences

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