Disorders


 

Carnitine Palmitoyltransferase II Deficiency


Synonym(s): CPT II Deficiency

 

GeneReviewOMIM

GeneLocusProtein
CPT21p32Carnitine O-palmitoyltransferase 2

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA• Analyte
  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Enzyme assay
  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Analyte
  
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA• Analyte
  
Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory - Buffalo, NY, USA• Targeted mutation analysis
• Enzyme assay
  
CeGaT GmbH - Tuebingen, Germany  
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, 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
• Enzyme assay
  
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Targeted mutation analysis
  
diagenos - Osnabrueck, Germany  
Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, USA• Analyte
  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany  
GeneDx - Gaithersburg, MD, USA  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Targeted mutation analysis
  
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA  
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Analyte
• Enzyme assay
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Analyte
  
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA  
Medgene, MedGene - Bratislava, Slovakia  
Medical College of Wisconsin, Fatty Acid Oxidation Laboratory - Milwaukee, WI, USA• Analyte
• Enzyme assay
  
Medical Neurogenetics - Atlanta, GA, USA• Analyte
  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Biochemical Genetics - New York, NY, USA• Analyte
  
National Health Laboratory Services, Inherited Metabolic Diseases - Cape Town, South Africa  
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA• Analyte
  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA• Analyte
  
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain• Targeted mutation analysis
• Enzyme assay
  
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA• Analyte
  
Transgenomic - New Haven, CT, USA  
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Targeted mutation analysis
  
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands• Analyte
• Enzyme assay
  
University of California San Diego, Biochemical Genetics Laboratory - La Jolla, 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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