I am a Genetic Technologist within the Newcastle Mitochondrial NCG Diagnostic Service. I work within the molecular genetic team aiming to provide a genetic diagnosis for patients clinically affected with mitochondrial disorders.
Our service also includes Biomedical Scientists who use biochemical and histochemical assessment to investigate mitochondrial disease. Our multidisciplinary team establishes a genetic diagnosis for many patients, but because of the clinical and genetic complexity many patients’ disorders remain undiagnosed.
We continually strive to provide a diagnosis which is essential for accurate genetic and reproductive counselling for patients and their families. The importance of incorporating new techniques and technologies to develop the diagnostic service is reflected in our constant collaboration with the Mitochondrial Research Group.