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

GeneLocusProtein
BCS1L2q35Mitochondrial chaperone BCS1

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

* 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.

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