The 46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis (46,XX DSD/CGD) Sequencing Panel includes 9 genes associated with disorders of sex development (DSD) or complete gonadal dysgenesis (CGD) in patients with a 46,XX karyotype. A range of phenotypes may be observed in patients with 46,XX DSD/CGD, from mullerian aplasia and hyperandrogenism or ovarian dysgenesis, to adrenal hyperplasia with overvirilization. There are syndromic forms of 46,XX DSDs, such as Peters-Plus syndrome and WAGR syndrome. 46,XX complete gonadal dysgenesis (also referred to as 46,XX sex reversal, 46,XX true hermaphroditism, or ovotesticular DSD) may be observed in patients with presence of the SRY gene, in patients with copy number variations in SOX3, or due to mutations in other genes, such as RSPO1. Our 46,XX DSD/CGD Sequencing Panel includes full gene sequencing of B3GALTL, CYP11B1, CYP19A1, CYP21A2, PSMC3IP, HCCS, RSPO1, WNT4, and WT1. Please use our Endocrinology requisition form to order this testing.
Specimen Types Accepted
Any gene in the 46,XX DSD/CGD Sequencing Panel can also be ordered individually. Please contact us directly for cost and CPT code information.