Disorders

Mitochondrial Respiratory Chain Complex I Deficiency (Nuclear Genes)

Synonym(s): Mitochondrial Complex I Deficiency (Nuclear Genes)

Gene	Locus	Protein
NUBPL	14q12	Acyl-CoA dehydrogenase family member 9

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
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
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

^* 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.