Genetics

 

 

Effective 18^th May 2020

 

Dear colleagues,

 

On 27^th March 2020, due to the unprecedented impact of COVID-19, NHS England issued instructions to all genetic laboratories to minimise their testing activity and to focus only on Priority Tests.

 

The laboratory is now starting to return services to normal and will accept all referrals, urgent and non-urgent into the laboratory.

 

With the situation continuing to evolve and our ongoing support for COVID-19 testing it may become necessary for us to prioritise samples that we do receive. The list below indicates the tests that will continue to be given priority:

 

• Prenatal diagnosis
• 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

 

Should a non-priority sample require storage, prior to our being able to undertake testing you will be notified of the delay.

 

Please note we will not accept the following:

 

• saliva  / buccal samples

 

Thank you for your continued support as we work to restore our services to normal.

 

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 https://www.england.nhs.uk/publication/national-genomic-test-directories.

 

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).

 

 

 

 

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Key staff

 

Director of Genetics Laboratories  - Lucy Jenkins FRCPath

Head of Service (Cytogenetics) - Deborah Morrogh FRCPath

Head of Service (Molecular Genetics) - Sam Loughlin DipRCpath

 

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Opening hours

 

Monday-Friday 9am to 5.30 pm

 

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Contact details

 

Laboratory Tel (1): 020 7829 8870
Laboratory Tel (2): 020 7762 6888
Email: Genetics.Labs@gosh.nhs.uk