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 Liverpool Women's Hospital    
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Liverpool Women's Hospital
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Freedom of Information curve
  Crown Street
Liverpool, L8 7SS
Tel: tel:0151 708 9988
Fax: 0151 702 4028
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About the Laboratory

The laboratory uses various DNA analysis techniques to carry out testing for a wide range of genetic disorders (see current services section).

The types of investigations include confirmation/exclusion of a diagnosis, carrier testing and risk assessment in families with a known genetic disorder, presymptomatic prediction in individuals at risk of a late-onset genetic disorder, and prenatal diagnosis of genetic conditions where appropriate.

Consent
The laboratory does not seek to confirm that informed consent has been obtained for any tests requested. It is the responsibility of referring clinicians to ensure appropriate consent has been obtained.
An aliquot of DNA is stored from all patients referred unless consent for this is expressly denied.

DNA Banking
The laboratory will make and store DNA from patients with any genetic disorder for which testing is not presently possible. DNA will be made and stored for research purposes after consultation with the
head of the laboratory.

Types of sample:
DNA testing request cards are available on request from the laboratory.
The preferred sample type is EDTA blood 5-10 mls (1-2 mls from small children).

Results can also be obtained from other tissue samples including mouthwash/cheek scrape samples (in normal saline or 4% sucrose - see protocol). Please contact the laboratory for details of alternative sample types.

Referrals
Samples are normally referred by hospital consultants. For certain tests referrals are only accepted through the
Regional Clinical Genetics Service (details available on request).
GP referrals are not encouraged due to the specialist nature of the tests. Self-referral by patients is not accepted.

Reporting times
As the numbers of samples for each disorder are often small, the laboratory works most efficiently by "batching up" samples. Therefore the laboratory aims to report all non-urgent samples for specified mutation testing within 4-6 weeks. Samples where detection of an unknown mutation is required may take considerably longer. Please
contact the laboratory for details of disorder-specific reporting times.

Urgent work will be completed as soon as possible depending on the techniques required. Reporting times are typically less than one week for such cases.

Quality Control and Accreditation
The laboratory participates in the molecular genetics
national external quality assessment scheme; and has achieved higher than average scores for both the accuracy of results and the quality of interpretation for the previous four years.The laboratory conforms to the best practice guidelines of the Clinical Molecular Genetics Society (CMGS)

The laboratory is accredited by CPA (UK) Ltd. the national accreditation body for Medical Laboratories in the UK.

Education and training
The laboratory is involved in providing teaching and training to medical and science undergraduates, post-graduate and medical colleagues and other interested groups. If you are interested in any of these activities please
contact the laboratory. Small groups of visitors are welcome by prior arrangement.
The laboratory is an accredited centre for the training of clinical scientists in molecular genetics.

Research
The laboratory has several ongoing research collaborations with local clinicians and is always keen to expand this activity where possible. Please contact the
head of the laboratory for more details.

Audit
To supplement regular internal audit, comments and advice are invited to ensure that the service is run to meet the needs of referring centres and the needs of patients.