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

The Disorders of Sexual Development (DSD) panel is designed for the genetic diagnosis of congenital disorders that affect the differentiation of the gonads, the biosynthesis or action of sex hormones, and the formation of internal and external genitalia, which may manifest as genital ambiguity, discordance between chromosomal, gonadal, and phenotypic sex, or pubertal disorders. These conditions may be due to mutations in genes involved in sex determination (SRY, SOX9, NR5A1, MAP3K1, DMRT1), in steroidogenesis and hormonal function (CYP11A1, CYP17A1, CYP19A1, HSD17B3, HSD3B2, STAR, POR, NR3C1), in hormonal signaling and androgen response (AR, AMH, AMHR2, LHB, LHCGR, FSHB, FSHR, ESR1, ESR2), in gonadal development and Müllerian or Wolffian ducts (WT1, NR0B1, WNT4, RSPO1, SOX3, FOXL2, DHH, CBX2), as well as in multiple genes involved in complex syndromes and ciliopathies with associated DSD (BBS1, MKKS, CEP290, OFD1, MKS1, LZTFL1, TMEM67). The panel offers a comprehensive molecular evaluation that identifies pathogenic variants responsible for hypospadias, gonadal dysgenesis, androgen insensitivity, steroidogenesis enzyme deficiencies, and other forms of DSD, facilitating early diagnosis, multidisciplinary management, and family genetic counseling. Key genes analyzed include: SRY, SOX9, NR5A1, MAP3K1, AR, AMH, AMHR2, CYP17A1, HSD17B3, STAR, WT1, WNT4, FOXL2, and others. A complete list of analyzed genes can be obtained by contacting Genotica.