Disorders


 

Steroid 5-Alpha-Reductase Deficiency


Synonym(s): PPSH, Pseudovaginal Perineoscrotal Hypospadias

 

OMIM

GeneLocusProtein
SRD5A22p23.13-oxo-5-alpha-steroid 4-dehydrogenase 2

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

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