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Molecular Genetics – Liverpool Women’s NHS Foundation Trust

August 4th, 2016 9:42 am

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 ourdirectory of tests for bothinherited and acquired disorders. Pleasecontact us if the test you require is not listed in our directory.

The types of investigation include:

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 theUKGenetic 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. ContactUKGTN or our laboratory for full details. Details of services for rare disorders not currently available in the UK are available fromOrphanet andGeneTests as well as our laboratory.

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.

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.

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 theClinical Genetics Service on 0151 802 5001.

Mailing address for correspondence and samples

Merseyside and Cheshire Regional Molecular Genetics Laboratory Liverpool Womens 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 Laboratory - Roger Mountford (Consultant Clinical Scientist) Tel: 0151 702 4219 E-mail: roger.mountford@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 Trudie Cottrell - STP Trainee Healthcare Scientist (Genetics) 0151 702 4011 John Hall - Trainee Clinical Molecular Geneticist 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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Molecular Genetics - Liverpool Women's NHS Foundation Trust

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