Disorders

C10orf2-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form

Gene	Locus	Protein
C10orf2	10q24	Twinkle 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.