UCL Queen Square Institute of Neurology




Clinical appointments

The Highly Specialised Service clinic runs weekly. We offer face-to-face, video and telephone appointments. The team includes a clinical nurse specialist and clinical specialist physiotherapist, who attend the weekly clinics as well as Mitochondrial nursing and physiotherapy clinics. For undiagnosed patients, we typically accept referrals from neurology and clinical genetics. However, we will also accept referrals from other hospital specialists e.g., endocrinology, ophthalmology, and cardiology where there is a high index of suspicion of a specific mitochondrial disease. Patients with a biochemical or genetic diagnoses, or with positive family history of mitochondrial disease can be referred directly from their GP.

Acute advice for inpatients

If you have an unwell inpatient with diagnosed or suspected mitochondrial disease, e.g., stroke-like episodes please phone switch and ask for the muscle SpR at the National Hospital. 020 3456 7890. They will liaise with the mitochondrial team and one of our consultants will contact you. You can also email us on uclh.enquiry.mitochondrialservice@nhs.net

MDT for patient advice

We are happy to receive clinical or genetic external queries which we discuss at our weekly team meeting for diagnosed and undiagnosed patients. (The team includes medical, physiotherapy, neurometabolic, histopathological and molecular genetic expertise). A feedback report from the meeting is then available to the referring clinician. We also have established relationships with colleagues in endocrinology, cardiology, neurogastroenterology for complex cases.

Challenging genetic diagnoses

We offer review for undiagnosed cases including review of existing whole genome or whole exome data.

Clinical Trials

We currently have several exciting clinical trials recruiting for mitochondrial myopathies. Trial appointments take place at the Centre for Neuromuscular Disease, 8-11 Queen Square. Please email our research team for further information. (Research nurse specialist Ms Louise Germain l.germain@nhs.net  )


To refer a patient to our MDT or for genetic reanalysis you can email uclh.enquiry.mitochondrialservice@nhs.net

Patients of any age can be referred to our MDT for discussion and genetic data review.

To refer a patient to the clinical service please contact

Dr Robert Pitceathly and Professor Mike Hanna, NHS Highly Specialised Service for Rare Mitochondrial Disorders, Centre for Neuromuscular Diseases, The National Hospital of Neurology and Neurosurgery,  Box 102, London, WC1N 3BG

Email: uclh.enquiry.mitochondrialservice@nhs.net

For clinical appointments patients must be 16 years or older. We advise children be referred to our paediatric colleagues in paediatric metabolic medicine or paediatric neuromuscular medicine at Great Ormond Street Hospital with whom we have close working relationships.



GP referrals should be made via the NHS e-referral system.

Request type = ‘Referral’, Speciality = ‘Neurology’, Clinic Type = ‘Neuromuscular’ when refining your search enter ‘National Hospital for Neurology and Neurosurgery’, select ‘Triage service – Neuromuscular – NHNN-RRV’ and specify the mitochondrial clinic in your free text.

If you would like to enquire about clinical trials for your patients, please email Robert.pitceathly@nhs.net or our nurse specialise louise.germain@nhs.net

For more information on NHS Highly Specialised Services for Rare Mitochondrial Disorders please see https://mitochondrialdisease.nhs.uk

Diagnostic Laboratory Service

The National Hospital is home to the the UK’s leading neurometabolic laboratory offering a range of mitochondrial functional assays. Refer a sample 

Our neurogenetics laboratory now based at Barclay House offers a full range of mitochondrial diagnostics including mtDNA testing from blood, urine and muscle DNA, a number of nuclear encoded panels, mtDNA rearrangement and depletion analysis.

Refer a sample