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Diagnostic services for Mitochondrial Disorders & Metabolic Myopathies



dna The Columbia University Department of Neurology is world-renowned for many pioneering studies on mitochondrial and metabolic myopathies.

We provide comprehensive biochemical, morphological and DNA analyses to diagnose mitochondrial diseases, and to detect glycogenoses and disorders of lipid metabolism.

The laboratory is under the supervision of Salvatore DiMauro, MD, a recognized leader in the field. The Laboratory Director is Ali Naini, PhD, and the Medical Director is Michio Hirano, MD.

We provide personalized service and consultation, in order to help you decide on the most appropriate tests to order and to help you understand and interpret the results.

Our services include testing for mitochondrial disorders, glycogenoses and lipid disoreders (Mitochondrial DNA Point Mutations, Mitochondrial Enzymes, Southern Blot for mtDNA deletions, Quantitative PCR for depletion, Gene Sequencing, Coenzyme Q10 Muscle, Coenzyme Q10 Blood, Thymidine Phosphorylase (MNGIE), Glycogenoses Enzymes, CPT enzyme radioactive, Glycogenoses DNA Testing)

The Merritt Center The Merritt Center CUMC NINY