Differences of sex development (DSDs) occur when sex development does not follow the course of typical male or female patterning. Types of DSDs include congenital development of ambiguous genitalia, disjunction between the internal and external sex anatomy, incomplete development of the sex anatomy, and differences in the development of gonads (such as ovotestes or streak ovaries). DSDs can be caused by a wide range of genetic abnormalities. Determining the etiology of a DSD in an individual can assist in identifying potential health problems such as adrenal crisis or gonadoblastoma.
Our Ambiguous Genitalia Panel includes genes associated with both syndromic and non-syndromic DSDs. This comprehensive panel evaluates a broad range of genetic causes of differences in genitalia, including conditions in which ambiguous genitalia are the primary physical finding as well as syndromic conditions that involve differences in genitalia in addition to other congenital anomalies. This panel includes sequence and deletion/duplication analysis of the listed genes.
