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Effective Friday 27th March 2020


Dear colleagues,


Due to the unprecedented impact of COVID-19, NHS England have issued instructions to all genetic laboratories that they should immediately minimise their testing activity to focus on 'Priority Tests' and to utilise all remaining resources to support the significant increase required for COVID-19 testing.


Please restrict your test referrals to priority tests only:


  • Prenatal diagnosis (amniocentesis preferred, NIPD restricted to fetal sex determination or paternal exclusion in high risk cases).
  • High risk families needing urgent carrier screening related to pregnancy (e.g. cystic fibrosis, thalassaemia, sickle cell)
  • Rapid paediatric exome sequencing
  • Newborn screening
  • Testing where rapid genetic testing may alter immediate clinical treatment or decision making (e.g. BRCA testing to inform chemotherapy,  HSCT options, m.1555A>G for aminoglycoside ototoxicity)
  • Samples for DNA storage from fetal, neonatal or paediatric death


Please refrain from sending test referrals for tests that are excluded from this list. In consideration of the samples that you have already posted, we will make best efforts to extract & store DNA for the samples received prior to noon Tuesday 31st March. Thereafter we will have to store samples received that are not for the indications above.


Please note we will not accept the following:


  • saliva  / buccal samples
  • products of conception for investigation into multiple miscarriage
  • karyotyping for fertility studies
  • samples that require export for non-urgent external testing
  • research samples for extraction / processing


We very much regret implementing these measures but we already have a number of staff with COVID-19 and requests to redeploy staff and equipment to assist with COVID testing meaning this is the only option for us currently.


Thank you for your understanding








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.


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


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.


The laboratories are members of the South East of England Genetics Network (SEEGEN) and the United Kingdom Genetic Testing Network (UKGTN).


Pricing has been updated for samples received from 1st January 2019 onwards.  Please see the link to our updated price list for NHS patients below.  


2019 price list for NHS patients



Key staff


Director of Genetics Laboratories  - Lucy Jenkins FRCPath

Head of Service (Cytogenetics) - Deborah Morrogh FRCPath

Head of Service (Molecular Genetics) - Sam Loughlin DipRCpath


Opening hours


Monday-Friday 9am to 5.30 pm


Contact details


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


© 2011 Great Ormond Street Hospital for Children NHS Trust