Skip to main content

This site is best viewed with a modern browser. You appear to be using an old version of Internet Explorer.

Rare Mitochondrial Disorders Service

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.


Mitochondrial Diseases Diagnosis and Management Outpatient Clinic

Our team

As part of this clinic our Genetic Counsellor also sees mitochondrial patients and couples for reproductive counselling and decision-making.

Reproductive options available to certain couples, through our clinic, can include:

  • prenatal diagnosis, including non-invasive prenatal diagnosis (NIPD)
  • Pre-implantation Genetic Diagnosis (PGD)
  • gamete donation.
Cardiomyopathy and Inherited Cardiac Conditions

If appropriate, patients can be seen on the same day in the Cardiomyopathy and Inherited Cardiac Conditions clinics.

Mitochondrial Diseases Genetic Counselling and Follow-up Telephone Clinics

Telephone clinics are also possible in some cases.

  • Dr Victoria Nesbitt offers follow-up telephone consultations to patients unable to travel to Oxford.
  • Jo Lowndes offers genetic counselling and pre-clinic consultations by telephone on an individual basis.
  • Professor Jo Poulton continues to see patients in the Dubowitz Neuromuscular Unit at Great Ormond Street Hospital.


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

Our Diagnostic Referral Proforma is available here:

Request forms - Oxford Genetics Laboratories

Contact details

Non-urgent queries

Patients, family members and clinicians


We aim to reply to all queries within one week.

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 225899

Diagnostic samples

Oxford Medical Genetics Laboratories
Oxford University Hospitals NHS Foundation Trust
Churchill Hospital
Oxford OX3 7LE

Tel: 01865 226001


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.

Last reviewed:14 May 2024