Please be advised that reporting times for neurogenetic test requests are still affected by the move as well as the ongoing covid-19 pandemic. 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.

The Neurogenetics Laboratory merged with the Great Ormond Street Genetics Laboratories to become part of the newly established Rare & Inherited Disease Laboratory of the NHS North Thames Genomic Laboratory Hub (GLH) on the 7 August 2020.

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 6 and 7 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.

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.

Service management

Other contact information

GP Enquires
Please contact the referring clinician.

Patient Enquires
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)

UCLH service name Choose and book specialty Clinic type
Adult Neuro-Genetics Neurology n/a

 

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.

Tertiary referrals
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
  • Dystonia
  • Neuropathies
  • Muscle ion channel diseases
  • Episodic neurological disorders
  • Dementia
  • 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 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.

From 3 August 2020 all requests for Neurogenetic tests should be made using the GLH rare disease referral form, which can be found here.

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

Sample type

  • 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.