Disorders


 

Mitochondrial Respiratory Chain Complex II Deficiency, SDHAF1-Related


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

 

OMIM

GeneLocusProtein
SDHAF119q13.12Succinate dehydrogenase assembly factor 1, mitochondrial

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
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand• Sequence analysis of the entire coding region
• Deletion/duplication analysis
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
 

* 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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