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The laboratory uses various DNA analysis techniques to carry out testing for a wide range of genetic disorders. The types of investigation 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. |
The laboratory will make and store DNA from patients with any genetic disorder for which testing is not presently possible, or for research purposes after consultation with the laboratory
The preferred sample type is EDTA blood 5-10mls (1-2 mls from small children).
Results can also be obtained from mouthwash/cheek scrape samples (in normal saline or 4% sucrose). It is also possible to obtain limited results for some assays from paraffin embedded fixed tissue samples.
DNA testing request cards are available on request from the laboratory
As the number 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 within six weeks
Urgent work will completed as soon as possible depending on the techniques required. Reporting times are typically less than one week for such cases.
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 three years.
The laboratory is involved in providing teaching and training to medical and science undergraduates, post-graduate and medical colleagues and other interested groups. This can take the form of lectures, seminars or tutorial sessions, and the provision of data as required. If you are interested in any of these activities please contact the laboratory. Small groups of visitors are welcome by prior arrangement.
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.
To supplement regular internal audit, your comments and advice are invited to ensure that the service is run to meet your needs and the needs of your patients.