46,XY GONADAL DYSGENESIA: CLINICAL EXOME PANEL (Sec. & CNVs) – 16 genes

The 46,XY Gonadal Dysgenesis Panel is designed for the genetic diagnosis of disorders of sexual development in individuals with a male karyotype who present with dysgenetic gonads, ambiguous genitalia, or a female phenotype with an absence of functional testicular structures. These conditions result from mutations affecting testicular determination and differentiation, androgen signaling, or sex steroid synthesis. The panel includes genes fundamental to gonadal determination and testicular function, such as SRY, SOX9, NR5A1, MAP3K1, DHH, DMRT1, AR, ZFPM2, ARX, and WT1, which are responsible for the main subtypes of complete or partial 46,XY dysgenesis. Identifying pathogenic variants allows for molecular diagnosis, guides endocrinological and surgical management, assesses the risk of gonadoblastoma, and informs family genetic counseling. Key genes analyzed: SRY, SOX9, NR5A1, MAP3K1, DHH, DMRT1, AR, WT1, ZFPM2, ARX, and others. For a complete list of analyzed genes, please contact Genotica.