Service disruption


Reporting times for Genetic tests at Great Ormond Street have been impacted by a number of factors, including staff shortages, an increase in workload post-COVID and following the introduction of the Genomic Medicine Service (including increased Whole Genome Sequencing).


This has primarily affected non-urgent tests including NGS, WGS and microarray.


All urgent testing continues to be prioritised and is mostly reported within the guidance national turn around times.


Please contact the laboratory if you have any concerns about a specific case or service, and to provide feedback:



NHNN Neurogenetics Laboratory move to Great Ormond Street


As part of the implementation of the NHSE reconfiguration of genomic testing in England, the NHNN Neurogenetics Laboratory at the NHNN / Institute of Neurology has merged with the Great Ormond Street Genetics Laboratories to become part of the Rare & Inherited Disease Laboratory of the North Thames Genomic Laboratory Hub (GLH). GOSH and UCLH Clinical Scientists will work side by side in their existing analytical and reporting roles.


The Neurogenetics move took place in August 2020. Referrals for Neurogenetics tests can be sent to the Great Ormond Street Laboratories from now. For information on Neurogenetics-specific tests, please contact:


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing and form the Rare & Inherited Disease Laboratory of the London North Genomic Laboratory Hub.  The laboratories are co-located with the  Clinical Genetics Department  at Great Ormond Street Hospital.


The National Genomic Test Directory  specifies which genomic tests are commissioned by the NHS in England, the technology by which they are available, and the patients who will be eligible to access a test. The National Genomic Test Directory for rare and inherited disorders and cancer  and associated eligiblity criteria can be accessed at


The Rare & Inherited Disease Laboratory at Great Ormond Street will continue to receive samples, perform genomic tests and dispatch DNA samples for specialist testing to the appropriate laboratory. We will issue further information about the future genomic testing arrangements as it becomes available.


Comprehensive constitutional chromosome analysis is offered for a range of referrals (postnatal and prenatal) using high density oligonucleotide microarrays, G-banding karyotyping and fluorescence in situ hybridization (FISH).  Other DNA based cytogenetics tests employed by the laboratories include quantitative fluorescence polymerase chain reaction (QF-PCR) and multiplex ligation probe amplification (MLPA).


Diagnostic, carrier and predictive testing is offered for a comprehensive range of single gene disorders as well as a DNA banking service whereby samples can be forwarded to external laboratories for approved requests providing funding is available.


Non-invasive prenatal diagnosis by fetal sexing is offered for X-linked disorders and NIPD testing is also available for a number of single gene disorders.  In addition, the laboratories are nationally commissioned to provide specialised diagnostic services for Bardet-Biedl syndrome, craniosynostoses, lysosomal storage disorders and severe combined immunodeficiencies.


The laboratories have a strong commitment to translational research and new service development and collaborate closely with clinical and academic colleagues within Great Ormond Street Hospital for Children (GOSH), the UCL Institute of Child Health and the UCL Partners academic health science centre.



We are one of the partners in the North Thames Genomic Laboratory Hub (NTGLH) who have genomic testing laboratories across North London. Led by Great Ormond Street NHS Foundation Trust, the partners include Barts Health NHS Trust, Imperial College Hospital and its partner laboratory North West London Pathology, The Royal Marsden NHS Foundation TrustUniversity College London Hospitals NHS Foundation Trust and The Royal Free London NHS Foundation Trust with its partner laboratory Health Services Laboratories, and The Royal National Orthopaedic Hospital. Other organisations who have genetic services and active genomic research laboratories, such as Moorfields Eye Hospital, will also contribute to the GLH. For further information see our NTGLH website :About - North Thames Genomic Laboratory Hub (




Key staff


Director of Genetics Laboratories  - Lucy Jenkins FRCPath

Head of Service (Cytogenetics) - Deborah Morrogh FRCPath

Head of Service (Molecular Genetics) - Sam Loughlin DipRCpath

Head of Service (Neurogenetics) - James Polke PhD FRCPath


Opening hours


Monday-Friday 9am to 5.30 pm


Contact details


Laboratory Tel (1): 020 7829 8870
Laboratory Tel (2): 020 7762 6888


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    This laboratory is accredited in accordance with the recognised International Standard ISO 15189. This accreditation demonstrates technical competence for a defined scope and the operation of a medical laboratory quality management system (refer joint ISO-ILAC-IAF communiqué dated November 2021).

    Our accreditation is limited to those activities described on our UKAS schedule of accreditation found here:




    Joint ISO-ILAC-IAF Communiqué (ISO 15189)

    A medical laboratory's fulfilment of the requirements of ISO 15189 means the laboratory meets both the technical competence requirements and the management system requirements necessary for it to consistently deliver technically valid test results. The management system requirements in ISO 15189 are written in language relevant to a medical laboratory's operations. Medical laboratories that implement ISO 15189 operate generally in accordance with the principles of ISO 9001.

© 2011 Great Ormond Street Hospital for Children NHS Trust