Disorders

Steroid 5-Alpha-Reductase Deficiency

Synonym(s): PPSH, Pseudovaginal Perineoscrotal Hypospadias

Gene	Locus	Protein
SRD5A2	2p23.1	3-oxo-5-alpha-steroid 4-dehydrogenase 2

Laboratory	Test Method	Prenatal	Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey	• Targeted mutation analysis
Burc Molecular Genetics Laboratory - Istanbul, Turkey
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany
GeneDx - Gaithersburg, MD, USA
GGA - Galil Genetic Analysis - Kazerin, Israel
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
National Health Laboratory Services, Inherited Metabolic Diseases - Cape Town, South Africa
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
UCL Hospitals, Clinical Biochemistry Laboratory - London, Great Britain	• Analyte

^* 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.