WGS: The North Thames Rare Disease GLH Laboratory currently has significant delays processing referrals for whole genome sequencing (WGS). There is a backlog of transcribing referral and consent forms prior to dispatch of DNA for sequencing, and of data analysis and reporting. A case referred for clinically non-urgent WGS testing is currently likely to take a year between receiving the referral paperwork and a report being issued. We sincerely apologise for these delays; the Neurogenetics Laboratory is working with GLH partners to improve throughput for sample dispatch and analysis, and there are national efforts (with NHSE and Genomics England) ongoing to improve the referral and testing process for all users of the national WGS service.
Other Tests: Due to staff shortages in the technical team and technical issues with some tests there are also delays to issuing some mitochondrial genome sequencing and mitochondrial rearrangement reports, please contact the laboratory to enquire about the progress of individual cases.
Clinically urgent samples will continue to be prioritised wherever possible. Do not hesitate to contact the laboratory for further information.
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 merged with the Great Ormond Street Hospital Genetics Laboratory in July 2020. UCLH Neurogenetics Clinical Scientists and the GOSH team now work side-by-side to form 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.
Other contact information
Please contact the referring clinician.
Please note that the contact details given 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.
For urgent clinical advice contact the on-call neurology or neurosurgery SpR.
Telephone: 020 3456 7890
Other referral information
NHS E-referrals (formerly Choose and Book)
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Access to patient results
The GP is kept updated of the clinical and diagnostic process. On occasion, given the delicate nature of the result, patients opt, via their referring clinician, for GPs not to be informed and their request is respected.
This is a nationwide service, accepting referrals from all over the UK.
- Mitochondrial Disease
- Parkinson's disease and parkinsonism
- Inherited ataxias
- Huntington's disease and related choreiform disorders
- Muscle ion channel diseases
- Episodic neurological disorders
- Amyotrophic Lateral Sclerosis
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.
How to refer a sample
From 3rd August 2020 all requests from outside of UCLH for Neurogenetic tests should be made using the GLH rare disease referral form, which can be found here, and sent to the new laboratory address:
Rare & Inherited Disease Genomic Laboratory
North Thames GLH
Level 5 Barclay House
37 Queen Square
London WC1N 3BH
- General Samples:
National and international samples are welcome at the request of a specialist clinician.
- Private Samples:
Samples are accepted for private patients. If samples are taken on behalf of a private clinic, the name and address of the private clinic/specialist consultant should be provided for reporting purposes, when forwarding to the laboratory.
Samples from wards and clinics at the University College London Hospitals (UCLH) should be accompanied with a Referral form, automatically generated when placing orders in Epic. Blood and DNA samples from outside hospitals can be sent by first class mail.
The Association for Clinical Genomic Science (ACGS) guidelines recommend at least 2 pieces of identifying information on every sample tube.
- Patient's full name (surname/family name and given/individual name)
- Date of birth and/or unique hospital/NHS number
Other information provided with referrals should include a pedigree, where appropriate, with the full names of known individuals and correct family identifiers
- DNA: 1-3 micrograms of DNA. Please can method of extraction be included on form.
- Blood: 10-12mls (minimum volume 2 mls), in PLASTIC EDTA tubes.
- Prenatal: By prior arrangement ONLY.
- Urine: Sample to be taken first thing in the morning
- Tissue samples e.g.muscle: Should be sent frozen, on dry ice, by courier. Please advise the laboratory of the arrival of these samples in advance.
For any other sample types, please telephone for advice.
Note: Unlabelled, mislabelled and samples in glass bottles will not be accepted
Samples coming from outside UCLH/GOSH must be packed in accordance with UN packing requirement PI 650 and clearly labelled 'diagnostic speciment UN3373'
Samples which do not conform to these criteria may be discarded.
Consent for testing and storage of DNA
For samples originating within the NHNN, clear indication of consultant approval and patient consent, for diagnostic testing and/or research purposes must be completed on the request form. Samples referred from other laboratories must be sent with written consent or a clear indication that consent has been obtained. Samples received into the laboratory without this information will be stored without analysis until consent is obtained. Samples for Predictive Testing are only accepted from recognised genetic service providers
Consent for DNA testing must be obtained from the patient by the referring clinician prior to referral of the sample. This is not the responsibility of the laboratory staff.