I work as a laboratory specialist in Clinical Genetics at the Department of Clinical Genetics at MUMC+, with a focus on mitochondrial diseases. Using next-generation sequencing, we analyze all genes in patients suspected of having a mitochondrial disorder, including both nuclear genes and genes encoded by mitochondrial DNA (mtDNA).

The identified genetic variants are filtered using bioinformatics tools to pinpoint the causal variant. If a novel gene or an unknown variant is found, functional tests can be conducted to further substantiate its pathogenic role. Identifying the underlying defect completes the diagnostic process for the patient, allowing for predictive family studies. Additionally, it enables the prevention of disease transmission through prenatal diagnosis or preimplantation genetic diagnosis (PGD). Finally, in some cases, the identified defect allows for direct therapeutic intervention.