Disorders


 

C10orf2-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form


 

OMIM

GeneLocusProtein
C10orf210q24Twinkle protein

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
diagenos - Osnabrueck, Germany  
GeneDx - Gaithersburg, MD, USA  
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain• Sequence analysis of select exons
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases - Nijmegen, Netherlands  
Transgenomic - New Haven, CT, USA  

* 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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