Disorders

Mitochondrial Respiratory Chain Complex II Deficiency, SDHAF1-Related

Synonym(s): SDHAF1-Related Succinate CoQ Reductase Deficiency

Gene	Locus	Protein
SDHAF1	19q13.12	Succinate dehydrogenase assembly factor 1

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
GeneDx - Gaithersburg, MD, USA
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand
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.