Disorders

Ethylmalonic Encephalopathy

Gene	Locus	Protein
ETHE1	19q13.32	Persulfide dioxygenase ETHE1

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA	• Analyte
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA	• Analyte
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA	• Analyte
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA	• Analyte
Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, USA	• Analyte
GeneDx - Gaithersburg, MD, USA
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Biochemical Genetics - New York, NY, USA	• Analyte
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA	• Analyte
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Analyte
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands
University of Miami Miller School of Medicine, Biochemical Genetics Diagnostic Laboratory - Miami, FL, USA	• 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.