Disorders

Leigh Syndrome, French-Canadian Type

Synonym(s): COX Deficiency, French-Canadian Type, Cytochrome C Oxidase Deficiency, French-Canadian Type

Gene	Locus	Protein
LRPPRC	2p21	Leucine-rich PPR motif-containing protein

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Enzyme assay
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
Hospital Sainte-Justine, Molecular Diagnostics Laboratory - Montreal, Canada	• Targeted mutation analysis
Medical Neurogenetics - Atlanta, GA, USA
Opmedic Group Inc., Genetic Laboratory - Mont-Royal, Canada	• Targeted mutation analysis
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases - Nijmegen, Netherlands

^* 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.