Disorders

3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency

Gene	Locus	Protein
HMGCS2	1p13-p12	Hydroxymethylglutaryl-CoA synthase

Laboratory	Test Method	Prenatal	Carrier *
GeneDx - Gaithersburg, MD, USA
Universidad de Zaragoza, Facultad de Medicina, Laboratorio de Genética Clínica y Genómica Funcional - Zaragoza, Spain	• 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.