Disorders

17-Beta-Hydroxysteroid Dehydrogenase X Deficiency

Synonym(s): 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency, HSD 10 Deficiency, HSD10 Deficiency, HSD17B10 Deficiency

OMIM

Gene	Locus	Protein
HSD17B10	Xp11.2	3-hydroxyacyl-CoA dehydrogenase type-2

Laboratory	Test Method	Prenatal	Carrier *
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA	• Analyte
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands	• Analyte • Enzyme assay

^* 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.