Disorders


 

POLG-Related Disorders


 

GeneReviewOMIM

GeneLocusProtein
POLG15q24DNA polymerase subunit gamma-1

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
Centre Hospitalier Universitaire de Grenoble, Biochimie Genetique et Molculaire - Grenoble, France  
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
  
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA  
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
diagenos - Osnabrueck, Germany  
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel  
GeneDx - Gaithersburg, MD, USA  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of select exons
  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA  
Haukeland University Hospital, Center for Medical Genetics and Molecular Medicine - Bergen, Norway  
HUSLAB, Laboratory of Genetics - Helsinki, Finland• Targeted mutation analysis
  
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand  
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands  
Medgene, MedGene - Bratislava, Slovakia  
Medical Neurogenetics - Atlanta, GA, USA  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
National Health Laboratory Services, Inherited Metabolic Diseases - Cape Town, South Africa  
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain• Targeted mutation analysis
• Linkage analysis
  
Praxis fuer Humangenetik Wien - Vienna, Austria  
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases - Nijmegen, Netherlands  
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA  
Transgenomic - New Haven, CT, USA  
University Hospital of Tuebingen, Medical Genetics Tuebingen - Tuebingen, Germany  
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, USA  
University of Turku, Diagnostic DNA Laboratory - Turku, Finland• Targeted mutation analysis
  

* 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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