Neurogenetics Laboratory 

The Neurogenetics Laboratory of the UCLH National Hospital for Neurology and Neurosurgery provides a regional, national and international diagnostic service for inherited neurological disorders. It was for many years situated within the UCL Queen Square Institute of Neurology but is merging with the Great Ormond Street Hospital Genetics Laboratory in July 2020. Following the merger, UCLH Neurogenetics Clinical Scientists will be working alongside the GOSH team as part of the Rare & Inherited Disease Laboratory of the London North Genomic Laboratory Hub.
The laboratory hosts two nationally-commissioned Highly-Specialised Services: For Rare Mitochondrial Disorders (in collaboration with centres based in Oxford and Newcastle), and a national service for Skeletal Muscle Channelopathies.

The Neurogenetics Laboratory is a UKAS accredited medical laboratory No.8040, the scope of our current accreditation is specified on the UKAS website. Users are advised to check this record independently for assurance of the accreditation status of tests requested as some may be newly developed and as yet not accredited.
Our user manual provides contact details for the laboratory, sample requirement specifications, a list of the full current test repertoire, methodology, reporting times and costs.

Our user manual also contains information for users written in collaboration with consultants from NHNN on genetic tests in Parkinsons disease and parkinsonism, Inherited ataxias, Huntington's disease and choreiform disorders, Dystonias, neuropathies, muscle and ion channel diseases, episodic neurological disorders, dementia and hereditary spastic paraplegia.

Conditions treated

  • Mitochondrial Disease
  • Parkinson's disease and parkinsonism
  • Inherited ataxias
  • Huntington's disease and related choreiform disorders
  • Dystonia
  • Neuropathies
  • Muscle ion channel diseases
  • Episodic neurological disorders
  • Dementia
  • Amyotrophic Lateral Sclerosis

Service performance

The Neurogenetics laboratory provides a local; national and international genetic diagnostic service for inherited neurological disease. Blood and tissue samples are referred to the laboratory on a daily basis. The laboratory now hosts a DNA bank that holds over 110,000 samples, receives over 4,000 referral and carries out over 6,000 DNA extractions annually.

Important Notice to Service Users 20 July 2020:

The Neurogenetics Laboratory is merging with the Great Ormond Street Genetics Laboratories to become part of the newly established Rare & Inherited Disease Laboratory of the North Thames Genomic Laboratory Hub (GLH).

This will create a single specimen reception, DNA extraction and genomic laboratory for North Thames, handling >90% of all requests for Rare Disease testing across the region. GOSH and UCLH Clinical Scientists will work side by side in their existing analytical and reporting roles.

The move (originally planned for March 2020) was delayed by the Covid pandemic and is now going ahead on 6th and 7th August 2020

Please be advised that reporting times for neurogenetic test requests are likely to be affected from now and potentially for several weeks after the move. We apologise for any inconvenience that this may cause, we are working to minimise disruption to the service as much as possible and will continue to prioritise urgent samples.

Please be advised that as part of this move we will no longer be offering TTR gene sequencing for ATTR Amyloidosis. Please send any referrals for this indication to the National Amyloidosis Centre, more information is available here.

Important notice to service users, August 2019:

NGS Panels Prices: Please note that the prices of our nuclear gene NGS panels are increasing from 1st Aug 2019 (for the first time since 2014). Here are the new prices.

Important notice to service users, September 2018:

Due to staff shortages and higher than expected demand, there are backlogs and reporting delays for some tests in the Neurogenetics Laboratory.

The next generation sequencing panel tests for CMT1, CMT2, dHMN, HSN, muscle ion channelopathies and Parkinson's disease panels currently have turnaround times of 6-9 months. The whole mitochondrial genome sequencing service also currently has a 6-9 month turnaround time. Referrals marked as clinically urgent are prioritised.

We are working to address these issues as soon as possible.

Please contact the laboratory if you require any further information.

Service performance

The Neurogenetics laboratory provides a local; national and international genetic diagnostic service for inherited neurological disease. Blood and tissue samples are referred to the laboratory on a daily basis. The laboratory now hosts a DNA bank that holds over 100,000 samples, receives over 4000 samples and carries out over 6000 DNA extractions on an annual basis. 

Neurogenetics Laboratory

Prof Sarah Tabrizi Neurogenetics Laboratory
Prof Nicholas Wood Neurogenetics Laboratory, Neurogenetics
Prof Paola Giunti Neurogenetics Laboratory, Neurogenetics
Prof Henry Houlden Neurogenetics Laboratory, Neurogenetics, Neurology and neurosurgery
Prof Michael Hanna Neuromuscular disease, Neurogenetics Laboratory, Neurology and neurosurgery

 Contact details

General enquiries
Telephone: 020 3448 4250

Other information

Please note that the contact details given above should not be used for patient enquires. Patients requiring further information regarding the progress of their genetic test or referral should contact their GP or referring clinician.

GP Enquires
Please contact the referring clinician.

Patient Enquires
The laboratory does not provide results direct to patients or GP’s.  For further information please contact your referring clinician.

For urgent clinical advice contact the on-call neurology or neurosurgery SpR. Telephone: 020 3456 7890

Service manager - Henry Houlden

 User manual