The Neurogenetics Unit at the National Hospital for Neurology and Neurosurgery offers a fully integrated service encompassing clinical assessment, diagnosis, molecular genetic testing and counselling for neurogenetic conditions.
In particular, we have clinical and scientific expertise in inherited movement disorders including Huntington's disease, ataxia and familial Parkinsonian diseases, neuromuscular disorders including peripheral neuropathies, channelopathies and mitochondrial disorders. A comprehensive User Manual is available from the laboratory on request. The laboratory is CPA accredited and a member of the UK Genetic Testing Network and is situated within the Department of Molecular Neuroscience at the NHNN/UCL. Close ties with clinical colleagues mean that the service is constantly developing in line with clinical need and so provides users (both patients and medical professionals) with an up-to-date and comprehensive service. Our scientists are well trained and professionally regulated (all participate in a CPD programme aimed at ensuring that scientists are both technically and theoretically up-to-date with new developments in the field) and have many years experience in analysis and interpretation of molecular genetic results.
The Neurogenetics Laboratory provides a regional service for inherited neurological disease and a national and international diagnostic service for rare neurogenetic disorders.
The Laboratory is based at the Institute of Neurology and laboratory staff actively contribute to and supervise research projects. The focus of much of the research is the molecular basis of neurogenetic disorders and these include channelopathies, neuropathies and mitochondrial disease as well as common diseases such as epilepsy and Parkinson Disease. The laboratory is well placed to perform these studies as we have some of the largest clinically characterised cohorts of patients nationally and worldwide. The Neurogenetics Laboratory forms an integral part of the clinical, research and teaching team.
We care for patients with:
- Charcot-Marie-Tooth disease
- Familial Parkinsonian diseases
- Hereditary spastic paraparesis
- Huntington's disease
- Mitochondrial disorders
- Myotonic muscle orders
- Neurofibromatosis type I and type II
- Von Hippel-Lindau disease
- Other rare inherited neurological conditions
The waiting time for clinical appointments is approximately four to eight weeks. The DNA diagnostic turnaround time varies depending on the gene test and the complexity of the analysis to be performed but is approximately eight weeks. Experts in our neurogenetics clinic see approximately 60-70 patients per month; the Huntington's disease clinic sees around 50 patients per month; the ataxia clinic sees around 20-25 patients per month.
There are two clinical nurse specialists within Neurogenetics; one covers Huntington's disease and neurocutaneous disorders and the other covers the remainder of neurogenetics and ataxia. In addition, the neuromuscular services are also supported by a clinical nurse specialist.
Neurogenetic conditions are generally chronic, long-term and incurable. We offer flexible follow-up depending on the needs of the patient and we work in close partnership with local health and social care services.