Disorders


 

Mitochondrial Respiratory Chain Complex II Deficiency, SDHA-Related


Synonym(s): Succinate CoQ Reductase Deficiency, SDHA-Related

 

OMIM

GeneLocusProtein
SDHA5p15Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
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
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

* 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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