Muscle Biopsy Service

The Muscle Biopsy service is part of the Dubowitz Neuromuscular Centre (DNC). One of our major roles is to provide a specialist diagnostic and assessment service for congenital muscular dystrophies and congenital myopathies.

The Muscle Biopsy service is located close by at the UCL Institute of Neurology in Queen Square. A dedicated team, with expertise in paediatric muscle conditions, works closely with the adult muscle and nerve pathology service.

The service carries out studies on muscle, skin and chorionic villus (CV) samples to identify abnormalities and help diagnose neuromuscular disorders. We use a range of procedures including histology, histochemistry, immuno-histochemistry, electron microscopy and fibroblast cell culture.

We report biopsy analysis results within different time frames that are determined by clinical need, and these results are first discussed with the clinicians within the Dubowitz Neuromuscular Centre before they are sent to referring clinicians.

Urgent samples (prenatal diagnosis and possible inflammatory conditions) are prioritised and reported as a matter of urgency.

The Highly specialised Service (HSS) for congenital muscular dystrophies and myopathies is a nationally funded service based at the Dubowitz Neuromuscular Centre in Great Ormond Street Hospital in London and is available free of charge to patients living in England and Scotland. We are able to accept referrals from outside England and Scotland, but charges will have to be made (please enquire).

Please refer to the relevant documentation below regarding the procedure for sending all samples for analysis, as well as details of our charges:

Repertoire of tests

Referring Fibroblast cultures for collagen VI studies

For Private Patients charges and Nerve Biopsies, please email:

Email: gos-tr.dnc.musclepathology@nhs.net