Disorders


 

3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency


Synonym(s): 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, HMG-CoA Lyase Deficiency

 

OMIM

GeneLocusProtein
HMGCL1p36.1-p35Hydroxymethylglutaryl-CoA lyase, mitochondrial

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA• Analyte
  
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA• Analyte
  
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA• Analyte
  
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Analyte
Centre de Biologie Est - Hospices Civils de Lyon, Maladies hrditaires du mtabolisme - Bron cedex, France• Sequence analysis of the entire coding region
 
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
 
Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, USA• Analyte
 
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, 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
New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics - Staten Island, NY, USA• Analyte
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA• Analyte
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Quest Diagnostics Nichols Institute - California, Biochemical Genetics Laboratory - San Juan Capistrano, CA, USA• Analyte
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA• Analyte
Universidad de Zaragoza, Facultad de Medicina, Laboratorio de Genética Clínica y Genómica Funcional - Zaragoza, Spain• Sequence analysis of the entire coding region
University of Alabama Birmingham, Biochemical Genetics Laboratory - Birmingham, AL, USA• Analyte
University of California San Diego, Biochemical Genetics Laboratory - La Jolla, CA, USA• Analyte
University of Maryland, Pediatric Biochemical Genetics Laboratory - Baltimore, MD, USA• Analyte
University of Miami Miller School of Medicine, Biochemical Genetics Diagnostic Laboratory - Miami, FL, USA• Analyte
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, 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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