Disorders


 

Fatal Infantile Lactic Acidosis


 

OMIM

GeneLocusProtein
SUCLG12p11.3Succinyl-CoA ligase [GDP-forming] subunit alpha, mitochondrial

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• 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
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
 
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Sequence analysis of the entire coding region
• Analyte
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands• Sequence analysis of the entire coding region
• Analyte
• Enzyme assay

* 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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