Services Available


The London Mitochondrial Disease Multi-disciplinary Service is based at the Centre for Neuromuscular Disease. The team meet on a weekly basis, and see adults and children at regular multidisciplinary outpatient clinics held in Queen square. The team consists of a dedicated team of Doctors, nurses, a physiotherapist, diagnostic and administrative staff. In addition to clinic appointments, we offer nursing and physiotherapy telephone consultations. For urgent queries the Mitochondrial Disease Nurse Specialist is contactable by phone during normal working hours, while there is an out-of-hours on-call service for ‘mitochondrial' emergencies.


The Highly Specialised Mitochondrial Disease Service in London is supported by three accredited laboratories located in the UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery: Respiratory chain biochemistry in the Neurometabolic Unit , mitochondrial genetic analysis in the Neurogenetics Laboratory and muscle histopathology in the Neuropathology Laboratory. Alongside the teams in Newcastle and Oxford, the London service has been designated as one of three component groups of the Highly Specialised Rare Mitochondrial Disorders of Adults and Children Service since 2007.

Referral Pathways

Clinical Referrals

We will only accept referrals via a Neurologist or Geneticist or, in the case of positive familial testing, referrals will be accepted from a GP. Referrals for transitioning children can also come from consultant paediatricians.

Diagnostic Referrals

Diagnostic samples will be accepted in our laboratory with the completion of the appropriate referral documentation available on our website. For referrals for muscle or liver respiratory chain enzyme analysis, please use this form; for genetic referrals please use this form.

Contact Details

For clinical correspondence

NHS Highly Specialised Service for Rare Mitochondrial Disorders
Centre for Neuromuscular Diseases
The National Hospital of Neurology and Neurosurgery
Box 102


For Diagnostic Samples


Neurogenetics Unit
6th floor, Institute of Neurology
Queen Square

Tel: 020 3448 4250 Fax: 020 7419 0948 Email:


Neurometabolic Unit (Box 105)
Albany Wing Basement Floor
The National Hospital of Neurology and Neurosurgery
Queen Square
Tel: 020 344 83844 Fax: 020 344 84782 Email: or for general enquiries:

Clinical Staff


Administration Staff