Order a test
From 2020 onwards, if you are part of the London North area, you will submit all genomic and genetic testing through the new Genomic Laboratory Hub.
National Genomic Test Directory
The National Genomic Test Directory specifies which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs. The Directory also stipulates the technology by which they are available, the patients who will be eligible to access to a test and who should request these tests. The Directory is updated annually and tests may be added or removed. The 2022/2023 National Genomic Test Directory for rare and inherited disorders and cancer can be accessed here.
For Rare and Inherited Diseases (excluding Whole Genome Sequencing), general information about the genetics laboratory can be found here (also containing links for further information regarding Molecular and Cytogenetic testing and contact information). Information regarding sending samples can be found here and the links for the requests forms are as follows:
- Molecular & Cytogenetic Test Request Form
- Prenatal Cytogenetic Test Request Form
- Rapid Paediatric Sequencing for the very sick child
- Rapid Fetal Exome sequencing
Please direct rare disease clinical queries directly to firstname.lastname@example.org
For Cancer (excluding Whole Genome Sequencing) general information about sending samples please see the Clinical Genomics Service Specification, contact information can be found here and the links for the requests forms are as follows:
Rapid exome sequencing
Rapid exome sequencing (R14) is available for the very sick neonate with a likely monogenic disorder (see test directory). It is also available for the fetus with multiple abnormalities and selected single anomalies detected on prenatal imaging where clinical genetics considers a monogenic aetiology likely (R21).
- R14 rapid sequencing for the very sick neonate or child with problems suggestive of a monogenic aetiology (Request forms, record of discussion forms and guidance documents can be accessed here) and information for parents can be found here
- R21 rapid sequencing for the fetus with abnormalities suggestive of a monogenic aetiology.
Request form, Record of discussion form, FAQs, FAQ flow chart, Information leaflet and guidance documents can be found here
For further queries please email:
email@example.com or ring 0207 762 6886
Highly Specialised Services
Existing high specialty contracts are in place these will continue as per the current arrangements. North Thames has several Highly Specialised Services: for many of these services the laboratory testing is delivered by the GLH Rare Disease laboratory and the Neurogenetics Laboratory based at GOSH. For those highly specialist services listed below, requests should follow existing methods and all samples sent to the RD laboratory at GOSH.
- Ehlers Danlos Syndrome National Service is delivered by North West Thames Regional Genetics service with laboratory testing performed by the Yorkshire and the North East GLH Laboratory based in Sheffield. More information about the service including contact details, referral criteria and organisations that can support patients can be found here.
- Lysosomal Storage Disorders: All laboratory testing is delivered by the GOSH laboratory. More information can be found here.
- Primary Immunodeficiency: Immunological and Genomic testing is delivered by GOSH for rare primary immunodeficiencies that are treatable by bone marrow transplantation. More information can be found here.
- Craniosynostosis: The GOSH Craniofacial unit is one of four in the UK with laboratory testing delivered by the Oxford and GOSH laboratories. More information can be found here.
- Bardet Biedl syndrome: Multidisciplinary Specialist Clinics are held at Guy’s Hospital and Birmingham Women’s & Children’s Hospital for adult cases. Paediatric referrals are via GOSH and Birmingham Women’s & Children’s Hospital. All laboratory testing is delivered by the GOSH laboratory. More information can be found here.
- Skeletal Muscle Channelopathies: The muscle clinic at National Hospital for Neurology and Neurosurgery (NHNN) is the UK national referral centre for all patients suspected of having a skeletal muscle channelopathy. This includes clinical assessment, DNA diagnosis by the neurogenetics laboratory, molecular expression proof of pathogenicity for new mutations, and genotype specific treatment selection and supervision. More information can be found here.
- Mitochondrial respiratory chain dysfunction is associated with a wide range of multi-system clinical phenotypes with considerable clinical overlap; the UCLH Neurogenetics laboratory is one of 3 laboratories (along with Oxford and Newcastle) delivering mitochondrial testing. More information can be found here.
North Thames GLH delivers two other highly specialist services where molecular testing is performed by other laboratories in our GLH. These are detailed below and requests and samples these tests should follow existing pathways as detailed below:
Amyloidosis and systemic autoinflammatory diseases
Testing for these conditions is delivered by The National Amyloidosis Centre (NAC) who provide a comprehensive molecular diagnostic service for both hereditary amyloidosis (transthyretin amyloidosis (ATTR) is the commonest) and systemic autoinflammatory diseases (SAIDs). The laboratory offers single gene testing, or for a wider range of genes, in particular for patients with suspected SAIDs, an NGS gene panel is available, which has sufficient depth for detection of low level mosaicism. Once the Genomic Medicine Service is fully operational, testing will be defined by the National Genomic Test Directory.
Advice for physicians on the current process for requesting molecular genetic screening can be found on the centre’s website. Further information for referring physicians and appropriate contacts in the centre can be found the here.
Retinoblastoma Genetic ScreeningThe higher specialist service for Retinoblastoma is delivered by the Barts Health Retinoblastoma Genetic Screening Unit (RGSU). The genetics service is closely aligned to Barts Health clinical service, which is a designated provider of retinoblastoma care in England and Wales. Information on the care offered by the Unit and processes for accessing services can be found on the Barts website.
Information and details and guidance about the services of the Retinoblastoma Genetic Screening Unit can be found in a number of documents. The RGSU User Manual sets out the process for genetic counsellors and physicians to submit specimens to the Unit using via RGSU Request Form after obtaining consent from a patient or parent.
Factsheets on Genetic conditions
Health Education England has produced a number of factsheets about genomic medicine and specific conditions and some brief videos.