Genetic Testing
We offer testing for a wide variety of endocrine conditions, such as disorders of sexual differentiation, thyroid conditions, premature ovarian failure, hypocalciuric hypercalcemia, and maturity-onset diabetes of the young (MODY).
For certain conditions, such as familial hypocalciuric hypercalcemia, determining the genetic cause may prevent the need for additional unnecessary testing to investigate etiology and other risks.
Testing also has direct implications for management for certain conditions such as multiple endocrine neoplasia. Identifying a mutation can also inform regarding recurrence risk and risk for other extended family members.