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Molecular genetics

Our molecular genetics laboratory provides a service to the population of Cheshire, Merseyside, and the Isle of Man and is accredited by Clinical Pathology Accreditation (CPA) Ltd. Our laboratory hours are between 9am and 5.30pm, Monday to Friday.

We work closely with colleagues at the North West Regional Molecular Genetics Laboratory, (based at St. Mary’s Hospital in Manchester), ensuring that the North West population has access to the most extensive range of possible tests. Also, the laboratory is a member of the UK Genetic Testing Network (UKGTN) which gives us rapid access to specialist tests that are available in accredited laboratories based in other UK regions.

  • Testing services available

    We use DNA analysis techniques on blood samples to carry out testing for a wide range of genetic disorders. Full details of all the tests available and the turnaround times are in our directory of tests for both inherited and acquired disorders. Please contact us if the test you require is not listed in our directory.

    The types of investigation include:

    • Confirmation or exclusion of a diagnosis for inherited and acquired disorders
    • Carrier testing and risk assessment in families with a known genetic disorder
    • Presymptomatic or predictive testing in individuals at risk of a late-onset genetic disorder
    • Prenatal diagnosis of genetic conditions, where appropriate
    • Pharmacogenetic testing to determine drug treatment options

    The laboratory offers testing for a range of ‘core’ disorders plus a set of more specialist services for which samples are received on a supra-regional or national basis.

    The laboratory is also a member of the UK Genetic Testing Network (UKGTN) and we can forward DNA samples to other UK genetics laboratories for testing of a large range of single gene disorders, where appropriate. Contact UKGTN or our laboratory for full details. Details of services for rare disorders not currently available in the UK are available from Orphanet and GeneTests as well as our laboratory.

  • Turnaround times

    Target turnaround times for genetic testing in the UK have been developed by the UK Department of Health. The target turnaround times for each test we provide are shown in our directory of tests. The laboratory works most efficiently by batching up samples, but aims to report all non-urgent samples within the stated times. Please contact us if a referral is urgent. Urgent work will be completed as soon as possible depending on the techniques required. Prenatal diagnostic testing will always be carried out urgently with a target reporting time of less than three working days (with the exception of tests that require Southern Blotting).

  • Suitable sample types

    The preferred sample type is 3ml of EDTA blood (K3E) from adults or 1-2ml from young children. Please note that this is NOT the same sample type as for routine cytogenetic analysis, (Karotyping) which requires Lithium Heparin samples. If in doubt about the appropriate sample type for a particular test please contact us.

    DNA can be extracted from 2ml saliva (collected using the OrageneTM DNA collection system), or using buccal swabs (collected using the IsoHelixTM system). Please note that buccal swabs may not necessarily provide sufficient DNA for all available tests. Please contact us using these sampling methods to ensure that the test required can be carried out.

    DNA can be extracted from fresh or frozen tissue samples, and it also possible to obtain limited results for some assays from blood spots or paraffin embedded fixed tissue samples. Please contact us before using these sampling methods to ensure that sufficient DNA of appropriate quality for the test required can be extracted.

    Prenatal diagnosis for single gene disorders is usually carried out on chorionic villus samples, but amniotic fluid or fetal blood samples can be used where necessary. Rapid aneuploidy (QF-PCR) testing can be carried out on DNA extracted from amniotic fluid or chorionic villus samples, as appropriate.

  • Sample handling and transportation

    All samples should be sent to the laboratory as soon as possible after they have been taken, addressed to Merseyside and Cheshire Regional Molecular Genetics Laboratory, Liverpool Women’s NHS Foundation Trust, Crown Street, Liverpool, L8 7SS. If this is not possible, then they should be stored in a secure refrigerator at +4°C and sent to the laboratory as soon as possible. All samples should be labelled with the patient’s name, date of birth, postcode, NHS number, unit number and the date of collection and be accompanied by a FULLY completed request card. Details of the family history should also be included, where relevant. The sample should be placed in a sealed specimen bag in such a way as to maintain patient confidentiality and to prevent spillage and contamination of couriers and porters. Samples sent through the post should be packaged in accordance with PI 650 and current UN3373 regulations.

    Please note that clotted blood samples or samples that are inadequately labelled or packaged will not be accepted by the laboratory. If samples are known to present a high risk to laboratory staff, then this should be clearly indicated on the referral card and sample tube.

  • Quality control and accreditation

    The laboratory is accredited by CPA (UK) - the national accreditation body for Medical Laboratories in the UK. The last inspection of the laboratory was carried out in September 2010. The laboratory participates in the molecular genetics national external quality assessment schemes run by UK NEQAS (United Kingdom National Quality Assessment Service) and EMQN (European Molecular Genetics Quality Network). The laboratory also conforms to the best practice guidelines of the Association for Clinical Genetic Science (ACGS).

  • Advice

    We can provide advice on scientific and technical issues. Please call us on 0151 702 4228. The Trust voice mail system operates on all external lines. When diverted to voice mail, please leave a message and someone from the laboratory will get back to you as soon as possible. In addition the laboratory has the nhs.net email account dna.liverpool@nhs.net that is monitored daily. This account is suitable for receipt of patient-identifiable information sent to the laboratory providing the sender also uses an nhs.net account. Patient-identifiable information should NOT be sent to other laboratory email addresses.

    Please note for advice on clinical and counselling issues, telephone the Clinical Genetics Service on 0151 802 5001.

  • Tests available
  • Contacting the laboratory

    Mailing address for correspondence and samples

    Merseyside and Cheshire Regional Molecular Genetics Laboratory
    Liverpool Women’s NHS Foundation Trust
    Crown Street
    Liverpool
    L8 7SS

    Other ways of contacting the laboratory

    Tel: 0151 702 4228
    Fax: 0151 702 4226
    E-mail: dna.liverpool@nhs.net

    Laboratory Staff

    Head of Genetics Laboratory – Dr Emma Howard (Consultant Clinical Scientist)
    Tel: 0151 702 4219
    E-mail: emma.howard@lwh.nhs.uk

    Duty Head – Victoria Stinton (State Registered Clinical Scientist)
    Tel: 0151 702 4231
    Email: Victoria.Stinton@lwh.nhs.uk

    Other Scientific staff

    Emma McCarthy - State Registered Clinical Scientist - 0151 702 4011
    Diane Cairns - State Registered Clinical Scientist - 0151 702 4225
    Kym Jones - State Registered Clinical Scientist - 0151 702 4225
    Abi Rousseau - State Registered Clinical Scientist - 0151 702 4011
    Emma Brownsell - Trainee Clinical Molecular Geneticist – 0151 702 4225

    Laboratory working hours

    Laboratory working hours are: 9am - 5:30pm Monday - Friday  (An out-of-hours service is not currently provided)

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