Rare Mitochondrial Disorders Service
Last updated 4 March 2021
Services available
Clinical
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 - mitochondrialdisease.nhs.uk
Diagnostics
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 - mitochondrialdisease.nhs.uk
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:
mitohelp@ouh.nhs.uk (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
Email: oxford.mitogenetics@nhs.net
For further information please visit:
Oxford | Services Available - mitochondrialdisease.nhs.uk
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.