Each year, the RCMM receives samples of patients from all over the world for diagnostic analysis of mitochondrial disorders. We offer biochemical, histological and genetic analysis of frozen tissue samples, cultured skin fibroblasts and blood/DNA samples. For hospitals located within 2h travel time from Nijmegen, biochemical analysis of fresh muscle samples is offered as well. In addition, we perform biochemical and genetic tests for prenatal diagnostics of mitochondrial disorders.
RCMM diagnostics of mitochondrial disorders is performed at the levels of biochemistry, mitochondrial DNA analysis, nuclear DNA analysis, pathology, and prenatal diagnostics. More information about any of these topics, including information on specific diagnostic tests and on shipment of samples can be found by selecting one of the links below.