Institute of Genetic Medicine

Mitochondrial Diagnostic Service

Mitochondrial Diagnostic Service

The Mitochondrial Diagnostic Service sits within the Mitochondrial Research Group laboratories. This is part of Newcastle University Medical School.

Our service

It has been providing a:

  • comprehensive
  • diagnostic
  • clinical management

service for patients with suspected mitochondrial disease for more than 10 years. We gained national commissioning group (NCG) funding from the government in 2007.

The lab works with UCLH NHS Foundation Trust and Oxford Radcliffe Hospitals NHS Trust. Together they provide specialist clinical and diagnostic investigations. This is the Rare Mitochondrial Disorders Service for Adults and Children.

Professor Doug Turnbull leads the clinical service. Professor Rob Taylor heads the laboratory service.

Laboratory diagnosis

The laboratory diagnosis of mitochondrial disease involves many components, including:

  • muscle histochemistry
  • biochemistry
  • molecular genetic analysis

Muscle histochemistry is particularly valuable. Presence of ragged-red and cytochrome c oxidase (COX) deficient muscle fibres provide clues. They suggest likely involvement of the mitochondrial genome.

Heteroplasmy complicates the molecular genetic analysis of the mitochondrial genome. There is the need to screen affected tissues.

Our diagnostic algorithms include:

  • screening for known point mutations associated with specific phenotypes
  • characterising mtDNA rearrangements
  • in some patients sequencing the entire mitochondrial genome to search for rare or novel mutations

Many nuclear genetic defects have caused isolated or several respiratory chain defects. In some cases, this can lead to secondary changes in the mitochondrial genome. These include mtDNA depletion syndromes and multiple mtDNA deletions.

Leading centre

The laboratory is one of the leading mitochondrial diagnostic centres in the world.

It has authored the CMGS Best Practice Guidelines. This is for the molecular genetic investigation of patients with suspected mitochondrial disease.


Laboratory service

Professor Rob Taylor (Head of Laboratory)
Dr Emma Watson (Clinical Scientist)
Dr Langping He (Clinical Scientist)
Mrs Charlotte Alston (Clinical Scientist)
Mr Gavin Falkous (Biomedical Scientist)
Mrs Angela Baker (Biomedical Scientist)
Dr Kate Hickman (Genetic Technologist)
Miss Sylvie Reid (Medical Laboratory Assistant)
Mrs Jane Brown (Administrator)

Clinical service

Professor Doug Turnbull (Consultant Neurologist)
Dr Bobby McFarland (Consultant Paediatric Neurologist)
Professor Patrick Chinnery (Consultant Neurologist)
Dr Andrew Schaefer (Consultant Neurologist)