Disorders of Sex Development Panel

Disorders of Sex Development Panel analyzes genes associated with disorders of sex development, characterized by atypical gonadal or anatomical sex development often presenting with abnormalities of the external genitalia, abnormalities of internal sex organs, hormonal dysregulation and/or infertility. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling. The hand-foot-genital syndrome-associated polyalanine repeat expansions in HOXA13 are not currently analyzed by this assay.