Disorders

17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia

Synonym(s): 17 Alpha Hydroxylase Deficient Congenital Adrenal Hyperplasia, Adrenal Hyperplasia V

Gene	Locus	Protein
CYP17A1	10q24.3	Steroid 17-alpha-hydroxylase/17

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
bio.logis Center for Human Genetics - Frankfurt, Germany
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
GeneDx - Gaithersburg, MD, USA
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medgene, MedGene - Bratislava, Slovakia
Praxis fuer Humangenetik Wien - Vienna, Austria
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
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.