Familial hypocalciuric hypercalcemia other diagnostic studies
Familial hypocalciuric hypercalcemia Microchapters |
Differentiating Familial Hypocalciuric Hypercalcemia from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q.
Other Diagnostic Studies
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
- Detects the following mutations of CASR gene