Nuclear DNA analysis

Laboratory tests

Single gene analysis: The RCMM offers DNA diagnostics for nuclear encoded subunits and assembly factors of the respiratory chain enzymes (complex I, II, III, and IV), the F1F0-type ATPase (complex V), pyruvate dehydrogenase and pyruvate carboxylase. In addition, a large number of additional genes associated with mitochondrial disease is offered, including genes involved in mitochondrial translation, mtDNA depletion and mitochondrial fission/fusion. In total more than 100 nuclear encoded genes involved in the mitochondrial energy generating system can be investigated. MLPA tests are available for a limited number of genes, including POLG.

Whole exome sequencing: In addition to sequencing of individual genes, whole exome sequencing is offered as a diagnostic test for mitochondrial disease. The analysis is performed in two steps. First, a package of more than 250 genes known to be associated with mitochondrial disease is examined and results are reported. If negative, the complete exome is examined for mutations in genes not previously known to be associated with mitochondrial disease. All variants that are identified by exome sequencing are validated by Sanger sequencing. For details please contact us. For mitochondrial DNA analysis please see under the specific heading on this website.

Shipping and Handling samples

For nDNA diagnostics a blood sample (5-10 ml) collected in plastic EDTA-tubes is required. The sample can be sent to the RCMM by regular mail at room temperature. For long distance shipment we advise to use courier service. For complex diagnostic questions please contact us before sending samples. For DNA diagnostics at the RNA level heparin blood (at least 10 ml) has to be collected in plastic tubes. Please send the sample on ice within 24 hours by express post to our center. In case fibroblast cell lines are available we prefer to receive these for the analyses on RNA level. In that case, genetic tests can be combined with enzyme testing (see “Biochemistry” on this website). For prenatal diagnostics, please contact us before sending the material. For prenatal diagnostics 30 mg chorionic villi have to be collected as well as EDTA blood (plastic tube) of the mother for maternal contamination testing. Postnatal DNA diagnostics will be completed within 6 to 8 weeks after receipt of the sample. Reporting time of whole exome sequencing, including clinical validation, is 4-6 months. A report of the prenatal diagnosis will be ready within 1 to 2 weeks.


In accordance with the Dutch regulations for DNA diagnostics.
For details please contact our secretary (+31 24 3614567).

Request form single gene analysis

Request form whole exome sequencing