Disorders

NR5A1-Related 46,XY DSD and 46,XY CGD

Synonym(s): 46,XY Disorder of Sex Development with Adrenal Failure, 46,XY DSD with Adrenal Failure, XY Sex Reversal with Adrenal Failure

OMIM

Gene	Locus	Protein
NR5A1	9q33	Steroidogenic factor 1

Laboratory	Test Method	Prenatal	Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain
Center for Human Genetics, Inc - Cambridge, MA, USA
diagenos - Osnabrueck, Germany
GeneDx - Gaithersburg, MD, USA
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands

^* 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.