Disorders


 

Isobutyryl-CoA Dehydrogenase Deficiency


 

OMIM

GeneLocusProtein
ACAD811q25Isobutyryl-CoA dehydrogenase, mitochondrial

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA• Analyte
  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Analyte
  
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA• Analyte
  
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA• Analyte
  
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA• Analyte
  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Analyte
Medical Neurogenetics - Atlanta, GA, USA• Sequence analysis of the entire coding region
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Biochemical Genetics - New York, NY, USA• Analyte
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA• Analyte
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA• Analyte
University of Miami Miller School of Medicine, Biochemical Genetics Diagnostic Laboratory - Miami, FL, USA• Analyte

* 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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