Disorders

SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria

Synonym(s): SUCLA2 Deficiency

Gene	Locus	Protein
SUCLA2	13q12.2-q13.3	Succinyl-CoA ligase [ADP-forming] subunit beta

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders - Prague, Czech Republic
diagenos - Osnabrueck, Germany
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
GeneDx - Gaithersburg, MD, USA
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands
Medgene, MedGene - Bratislava, Slovakia
Medical Neurogenetics - Atlanta, GA, USA
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain
Praxis fuer Humangenetik Wien - Vienna, Austria
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases - Nijmegen, Netherlands
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands	• Analyte • Enzyme assay
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, USA

^* 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.