Disorders

3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia

Synonym(s): 3 beta Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia

Gene	Locus	Protein
HSD3B2	1p12	3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Sequence analysis of the entire coding region
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany	• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
Centre de Biologie et Pathologie Est, Groupement Hospitalier Est, Endocrinologie Moléculaire et Maladies Rares - Bron, France	• Sequence analysis of the entire coding region
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of the entire coding region
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• 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
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of the entire coding region
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
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany	• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Praxis fuer Humangenetik Wien - Vienna, Austria	• Sequence analysis of the entire coding region
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Sequence analysis of the entire coding region
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.