About Molecular Genetics
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 or 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.
After tests remaining DNA from all patient is stored for quality assurance purposes. Consent is not required for this but it is considered good practice to inform patients of this policy
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 3ml (1-2 ml from small children). Results can also be obtained from other tissue samples including saliva Please contact the laboratory for details of alternative sample types.
Samples should ideally be sent to arrive at the laboratory before 5.00 p.m. on the day of collection. If this is not possible then samples may be stored overnight at +4˚C. Samples must not be frozen. The laboratory cannot guarantee that successful results will be obtained from samples collected into Lithium Heparin.
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.
Advice Service
The Head of Laboratory and scientific staff are happy to give advice on scientific and technical issues, the availability of testing and individual sample progress. The Trust voice mail operates on external lines. When diverted to voice mail, leave a message and someone from the laboratory will get back to you as soon as possible.
For advice on clinical and counselling issues please contact the Clinical Genetics Service.
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The laboratory aims to report all non-urgent samples for specified mutation testing within 2 weeks, unknown mutations in 8 weeks and prenatal diagnosis referrals in 3 days where possible. Sometimes it is not possible to meet these times for technical or logistical reasons. 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.
Complaints
Should you have any comments, suggestions, cause for concern or complaints about the service you receive from the laboratory, please contact the Head/ Deputy Head of the Laboratory or the Quality Manager.
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.
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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.
Revised 18.06.04 (Alan Clark)
Reviewed 18.05.05 (Alan Clark)
Authorised 18.05.05 (Roger Mountford)
Reviewed 08.02.06 (Alan Clark)
Revised 11.04.06 (Roger Mountford & Alan Clark)
Revised 10.11.08 (Alan Clark)
Revised 25.02.09 (David Gokhale)
