GeneDx now offers full sequencing of four additional genes associated with disorders of sexual differentiation:

1. CYP19A1 testing for aromatase deficiency
2. NR5A1 testing for 46,XY complete or partial gonadal dysgensis with or without adrenal failure
3. POR testing for cytochrome P450 oxidoreductase (POR) deficiency and Antley-Bixler syndrome
4. SOX9 testing for campomelic dysplasia

The addition of these four new genes expands our growing test menu for disorders of sexual differentiation, which also includes testing for the AR and SRY genes.