Hypospadias is a common malformation in which defective development results in abnormal placement of the urethral opening of the penis. Estimates of the incidence of hypospadias range from 4 to 40 in 10,000 male births; it is most frequently observed in Caucasians and least frequently observed in Asians and Hispanics. Hypospadias may be caused by environmental factors, but many genes have been associated with the malformation in both syndromic and isolated cases. The majority of genes identified in conjunction with hypospadias are syndromic although they may also cause isolated hypospadias when mutated. Few genes are associated solely with isolated hypospadias. Syndromes associated with hypospadias include WAGR syndrome, Opitz GBBB syndrome, and Smith-Lemli-Opitz syndrome. Our Hypospadias Sequencing Panel includes full gene sequencing of AR, ARX, ATRX, B3GALTL, BCOR, BMP4, CDKN1C, CREBBP, CUL7, CYP11A1, CYP21A2, DHCR7, DNMT3B, EFNB1, EPG5, ESCO2, EVC, EVC2, FAT4, FBXL4, FGF10, FGFR1, FGFR2, FGFR3, FIG4, FLNA, FRAS1, FREM2, GLI3, GPC3, GRIP1, HBA1, HCCS, HNF1B, HOXA13, HSD3B2, IRF6, MAMLD1, MAP3K1, MED12, MID1, MKKS, NR5A1, PCNT, PDE4D, PEX1, PITX2, PTDSS1, PTPN11, RBBP8, SALL1, SETBP1, SOX2, SPECC1L, SRD5A2, TMEM70, TP63, UBR1, WDR35, WNT7A, WT1, and ZEB2. Please use our Endocrinology requisition form to order this testing.
Specimen Types Accepted
Any gene in the Hypospadias Sequencing Panel can also be ordered individually. Please contact us directly for cost and CPT code information.