Disorders

NR0B1-Related 46,XY DSD and 46,XY CGD

Synonym(s): Dosage-Sensitive Sex Reversal

Gene	Locus	Protein
NR0B1	Xp21.3	Nuclear receptor subfamily 0 group B member 1

Laboratory	Test Method	Prenatal	Carrier *
GeneDx - Gaithersburg, MD, USA
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase • FISH-interphase
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.