AMBIGUOUS GENITALS: CLINICAL EXOME PANEL (Sec. & CNVs) – 105 genes

The Ambiguous Genitals panel is designed for the genetic diagnosis of disorders of sex development (DSDs) characterized by discrepancies between chromosomal, gonadal, and anatomical sex, with genital ambiguity or a discordant phenotype. These conditions encompass alterations in gonadal determination, testicular or ovarian differentiation, the biosynthesis or action of sex steroids, and morphogenetic signaling. The study includes key genes involved in sexual differentiation and endocrine function, such as SRY, SOX9, NR5A1, MAP3K1, AR, CYP11A1, CYP17A1, HSD17B3, HSD3B2, AMH, AMHR2, NR0B1, NR2F2, and WNT4, as well as genes associated with complex syndromes and ciliopathies with DSD (CHD7, FGFR1, FREM2, GLI3, ROR2, WT1). Identifying pathogenic variants allows for molecular diagnosis, guides multidisciplinary endocrine and surgical management, prevents gonadal malignancy, and provides family genetic counseling. Key genes analyzed include: SRY, SOX9, NR5A1, MAP3K1, AR, CYP17A1, HSD17B3, HSD3B2, AMH, NR0B1, WNT4, and others. A complete list of analyzed genes can be obtained by contacting Genotica.