Disorders

Mitochondrial Respiratory Chain Complex III Deficiency, BCS1L-Related

Synonym(s): Cytochrome-Related Disease of Muscle and Nervous System, Mitochondrial Complex III Deficiency, BCS1L-Related, Tubulopathy, Encephalopathy, and Liver Failure due to Complex III Deficiency

OMIM

Gene	Locus	Protein
BCS1L	2q35	Mitochondrial chaperone BCS1

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
GeneDx - Gaithersburg, MD, USA
Medical Neurogenetics - Atlanta, GA, USA
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases - Nijmegen, Netherlands
Transgenomic - New Haven, CT, USA
Transgenomic, Transgenomic - Omaha - Omaha, NE, 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.