DISORDERS OF SEXUAL DEVELOPMENT (DSD): CLINICAL EXOME PANEL (Sec. & CNVs) – 303 genes

The Disorders of Sex Development (DSD) panel is designed for the comprehensive study of genetic alterations affecting sex determination and differentiation in individuals with chromosomal, gonadal, or phenotypic sex discordance. It covers a wide range of genes involved in gonadal formation (SRY, SOX9, NR5A1, WT1), the synthesis and action of sex steroids (CYP11A1, CYP17A1, HSD17B3, SRD5A2, AR), androgen and hormone receptor signaling, as well as crucial pathways for morphogenesis and development of the genital tract (WNT, BMP, FGFR, MAPK, NOTCH). Using next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs, this panel allows for the characterization of 46,XY DSD and 46,XX DSD, identifying gonadal, hormonal, and structural causes, including complex syndromes and ciliopathies with reproductive or endocrine implications. Its clinical application facilitates accurate etiological diagnosis, family genetic counseling, personalized treatment planning, and a multidisciplinary approach in pediatric endocrinology, urology, and gynecology. Genes included (selection): SRY, SOX9, NR5A1, AR, AMH, AMHR2, CYP11A1, CYP17A1, HSD17B3, SRD5A2, DHH, WT1, MAP3K1, WNT4, WNT5A, WNT7A, FGFR1, CHD7, PROK2, PROKR2, NR0B1, NR2F2, and others. You can consult the rest of the genes studied by contacting Genotica.