Queen Square Centre for Neuromuscular Diseases





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 or 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.

We also accept PDF referrals via email to uclh.referrals.londonmitoncg@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 work closely.



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.

Clinic appointments

The Highly Specialised Rare Mitochondrial Disorders Service runs a weekly clinic. We offer face-to-face, video, and telephone appointments. Our team includes a dedicated clinical nurse specialist and clinical specialist physiotherapist who attend the weekly clinics and also offer mitochondrial disease 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) when there is a high index of suspicion of mitochondrial disease. Patients with a biochemical or genetic diagnoses, or with positive family history of mitochondrial disease, can be referred directly by their GP.

Acute advice for inpatients

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

Multidisciplinary team meetings for patient advice

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

Challenging genetic diagnoses

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

Diagnostic laboratory service

The National Hospital for Neurology and Neurosurgery is home to the the UK’s leading neurometabolic laboratory, which offers a broad range of mitochondrial functional assays. Refer a sample 

Our neurogenetics laboratory is based at Barclay House and provides a full range of mitochondrial diagnostic genetic analysis, including mitochondrial DNA testing in blood, urine, and muscle tissue, mitochondrial nuclear gene panels, and mitochondrial DNA rearrangement and depletion analysis.

Cardiolipin analysis

The Neurometabolic Unit at UCLH is now offering cardiolipin measurement on bloodspot samples to diagnose Barth syndrome, a rare disease caused by mutations in the tafazzin (TAZ) gene which is located on the X chromosome. The analysis of the ratio of monolysocardiolipin (MLCL)/cardiolipin (CL) on blood is the diagnostic test of choice. For more information follow the link or contact  uclh.enquiry.neurometabolic@nhs.net

Bloodspot cardiolipin testing information


Clinical trials

 Please see further information on our clinical trials page.