Disorders


 

3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency


Synonym(s): HADH Deficiency, M/SCHAD, Medium/Short-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Short Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency, Liver

 

OMIM

GeneLocusProtein
HADH4q22-q26Hydroxyacyl-coenzyme A dehydrogenase

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA• Analyte
  
Centogene AG, Rare Disease Company - Rostock, Germany• Analyte
  
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA• Analyte
  
diagenos - Osnabrueck, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GeneDx - Gaithersburg, MD, USA  
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Analyte
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Analyte
  
Medgene, MedGene - Bratislava, Slovakia  
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA• Analyte
  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
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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