Disorders


 

Trifunctional Protein Deficiency


 

OMIM

GeneLocusProtein
HADHB2p23Trifunctional enzyme subunit alpha, 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• Sequence analysis of the entire coding region
• Analyte
• Deletion/duplication analysis
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA• Analyte
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
CGC Genetics - Porto, Portugal• Sequence analysis of the entire coding region
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA• Analyte
Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, 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
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Analyte
Medical College of Wisconsin, Fatty Acid Oxidation Laboratory - Milwaukee, WI, USA• Analyte
• Enzyme assay
 
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
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
 
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA• Sequence analysis of the entire coding region
• Analyte
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
University of Miami Miller School of Medicine, Biochemical Genetics Diagnostic Laboratory - Miami, FL, USA• Analyte
Yale University School of Medicine, Biochemical Disease Detection Laboratory - New Haven, CT, 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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