Mitochondrial DNA analysis


Laboratory tests

We offer complete sequence analysis of the mtDNA using an Iontorrent platform. Before sequencing, the mtDNA is routinely tested for the presence of deletions and rearrangements. In the case of a clinically distinct presentation associated with mtDNA single nucleotide mutations (e.g. the MELAS/MIDD m.3243A>G mutation), pyrosequencing can be performed to determine heteroplasmy levels. In case of a suspected mtDNA depletion syndrome, we offer a QPCR-based test to quantify mtDNA content in muscle tissue. Because of tissue-specific heteroplasmy levels, analysis of clinically and/or biochemically (e.g. enzyme deficiency) affected tissue is usually preferred. The mtDNA analysis can be combined with biochemical testing (see under “Biochemistry” on this website). Biopsy material (muscle, skin, etc) for the purpose of DNA analysis should be sent deeply frozen. For the analysis of the m.3243A>G mutation, a urine sample can be send in. For analysis of LHON mutations and for suspected Pearson syndrome, an EDTA blood sample can be send in. For all other mtDNA tests, muscle is preferred. For more information please contact us.

Reporting time is 6 to 8 weeks after receipt of the sample.


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

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