Services Available


The London Highly Specialised Service for Rare Mitochondrial Disorders is based at The National Hospital for Neurology and Neurosurgery, Queen Square. 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.

Referral Pathways

Clinical Referrals

In general, we only accept referrals via Neurology or a Clinical Genetics. Exceptions include hospital specialists referring suspected or established mitochondrial disease (e.g., endocrinology referrals for mitochondrial diabetes and ophthalmology referrals for mitochondrial myopathies/ mitochondrial eye disease). For cascade testing of relatives following genetic diagnosis in a proband, referrals are accepted from a GP. The service is for Primary Mitochondrial Diseases, not secondary mitochondrial physiological changes established in private laboratories for non-specific clinical presentations (e.g., isolated fatigue or pain). We are happy to offer review to any patient diagnosed via our linked genetic, biochemical or pathology laboratories.

Diagnostic Referrals

Diagnostic samples will be accepted in our laboratory with the completion of the appropriate referral documentation. 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
Rare & Inherited Disease Genomic Laboratory
North Thames GLH
Level 5 Barclay House
37 Queen Square
London WC1N 3BH
Tel: 020 7829 8870  Email:


Neurometabolic Unit
6th floor Institute of Neurology
Queen Square House
Queen Square
London WC1N 3BG
Tel: 020 3448 3818  Email: or for general enquiries:


Clinical Staff


Administration Staff