FAMILIAR HYPOSPADIAS: CLINICAL EXOME PANEL (Sec. & CNVs) – 73 genes

The Familial Hypospadias Panel is designed for the genetic diagnosis of hereditary forms of hypospadias, a congenital malformation of the penis characterized by an ectopic urethral opening. This condition can occur in isolation or as part of syndromes of sexual development and multiple dysmorphisms. These abnormalities result from defects in androgen signaling, urethral formation, or gonadal differentiation. The study includes genes associated with androgen biosynthesis and action (SRD5A2, AR, HSD17B3, HSD3B2, CYP11A1, POR, NR5A1), urethral morphogenesis and patterning (FGFR1, FGFR2, HOXA13, HOXA4, HOXB6, BMP4, BMP7, GATA4, WNT5A, WT1), and complex syndromes with hypospadias (CHD7, FREM2, FRAS1, ROR2, ZEB2, MED12). Identifying pathogenic variants allows for confirmation of the etiological diagnosis, differentiation between syndromic and non-syndromic forms, guidance in surgical planning, and provision of family genetic counseling. Key genes analyzed: SRD5A2, AR, HSD17B3, HSD3B2, NR5A1, FGFR1, FGFR2, HOXA13, BMP7, WNT5A, WT1, and others. For a complete list of analyzed genes, please contact Genotica.