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Rare Mitochondrial Disorders Service

Last updated 4 March 2021

Services available


We see both child and adult patients for diagnosis and management of mitochondrial disease, with genetic management being a major feature of the service.

We have a multidisciplinary service, including regular cardiology review. We issue patients with emergency information sheets to support out-of-hours medical consultations.

Further details of our clinical service can be found here:

Oxford Clinical Services -


Laboratory services at the Oxford centre comprise specialist mitochondrial genetics (based within the Oxford Genetics Laboratories of Oxford University Hospitals NHS Foundation Trust) and some specialist biochemical, cellular and histological analyses.

A neuroradiology review service is also provided.

Referral pathways

Clinical referrals

We accept referrals via hospital specialists, including:

  • Neurologists
  • Geneticists
  • Paediatricians
  • Ophthalmologists
  • Clinical Biochemists

In the case of families where there is already a proven mitochondrial disease, referrals will be accepted from a GP.

Diagnostic referrals

Diagnostic samples will be accepted in our laboratories with the completion of the appropriate referral documentation.

Further information on the range of laboratory services is available here:

Laboratory and Diagnostic Services in Oxford -

Our Diagnostic Referral Proforma is available here:

Oxford Genetics Laboratories - referral forms

Contact details

For non-urgent queries from patients, family members and clinicians, please email: (We aim to reply to all queries within one week.)

For clinical correspondence:

NHS Highly Specialised Services for Rare Mitochondrial Disorders - Oxford Centre
Nuffield Department of Women's and Reproductive Health
Level 3, Women's Centre
John Radcliffe Hospital
Oxford OX3 9DU

Tel: 01865 221007

For diagnostic samples:
Oxford Medical Genetics Laboratories
Oxford University Hospitals NHS Foundation Trust
Churchill Hospital
Oxford OX3 7LE

Tel: 01865 226001


For further information please visit:

Oxford | Services Available -

Further information for professionals

Mitochondrial Disease Care Guidelines

The Mitochondrial Disease Care Guidelines below aim to provide expert guidance to health professionals on the management of specific aspects of Mitochondrial Disease.

These guidelines have been developed by the NHS Rare Mitochondrial Disorders Service in Newcastle using consensus expert opinion from specialists working across the UK, including Dr Victoria Nesbitt, Consultant Paediatrician, at the Rare Mitochondrial Disorders Service in Oxford.