The 46,XY Disorders of Sex Development/Complete Gonadal Dysgenesis (46,XY DSD/CGD) Sequencing Panel includes sequence analysis of 26 genes associated with disorders of sex development (DSD) or complete gonadal dysgenesis (CGD) in patients with a 46,XY karyotype. Individuals with 46,XY CGD (also known as 46,XY sex reversal) have a 46,XY karyotype in conjunction with normal female external genitalia, “streak” gonads, absent sperm production, and presence of a uterus and fallopian tubes. 46,XY CGD has been associated with mutations or copy number variations in several genes, including SRY, DHH, NR5A1, and SOX9 (with campomelic dysplasia). 46,XY DSDs are characterized by one or more of the following in an individual with a 46,XY karyotype: ambiguous genitalia with mild to severe penoscrotal hypospadias, dysgenetic gonads, reduced/absent sperm production, and Müllerian structures that range from absent to presence of a uterus and fallopian tubes. Example of genes associated with 46,XY DSDs include AKR1C2, CYB5A, GATA4, and SRD5A2. In addition, a 46,XY DSD phenotype may be syndromic, as in Mowatt-Wilson syndrome, X-linked lissencephaly-2, ATR-X syndrome, and Smith-Lemli-Opitz syndrome. Our 46,XY DSD/CGD Sequencing Panel includes full gene sequencing of ANKR1C, AMH, AMHR2, AR, ARX, ATRX, B3GALTL, CYB5A, CYP11A1, CYP17A1, DHCR7, DHH, CYNC2H1, GATA4, HCCS, HSD17B3, LHCGR, MAMLD1, MAP3K1, NR5A1, OPHN1, SOX9, SRD5A2, SRY, WT1, and ZFPM2. Please use our Endocrinology requisition form to order this testing.
Specimen Types Accepted
Any gene in the 46,XY DSD/CGD Sequencing Panel can also be ordered individually. Please contact us directly for cost and CPT code information.