From October 2018 the National Genomic Test Directory will specify 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 final draft 2018/2019 National Genomic Test Directory for rare and inherited disorders and cancer can be accessed at https://www.england.nhs.uk/publication/national-genomic-test-directories.
The NE Thames Regional Genetics 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.
The laboratories are members of the South East of England Genetics Network (SEEGEN) and the United Kingdom Genetic Testing Network (UKGTN).
Director of Regional Genetics Laboratories - Lucy Jenkins FRCPath
Head of Service (Cytogenetics) - Deborah Morrogh FRCPath
Head of Service (Molecular Genetics) - Sam Loughlin DipRCpath
Monday-Friday 9am to 5.30 pm
Laboratory Tel (1): 020 7829 8870 Laboratory Tel (2): 020 7762 6888 Email: Genetics.Labs@gosh.nhs.uk
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