gloved hands holding sample

Please ensure that you have adequate consent as outlined below before sending samples.

The guidelines for consent have recently been revised by the Royal College of Pathologists. The changes recommended will be implemented in line with pathology services nationally.

Disposal of samples

Samples received in the cytogenetics laboratory are accepted under the assumption that the patient has consented to genetic testing and to laboratory disposal of any remaining sample. This is clearly identified by the information for the referring clinician on the laboratory referral form.

When the patient has not consented to disposal by the laboratory, all remaining sample will be returned to the referring hospital for appropriate disposal.

To keep return of sample to a minimum, large amounts of tissue should not be sent.

DNA

DNA (either pure or a crude preparation) is retained from the majority of samples received in the laboratory for the purposes of validation, controls and family studies. It is important that the patients are aware of this. A consent form covering this and other issues is available.

If there are any problems with the storage of samples, please contact the laboratory.

Predictive testing

Predictive testing in late onset disorders such as Huntington’s disease or hereditary cancer is only available through the Genetic Counselling Service, as is diagnostic testing for the more complex dominant disorders where there may be significant implications for the family, as the issues of consent require detailed discussion and documentation.

Predictive testing for adult onset disorders in children lies outside our professional guidelines; in the event of such a test being requested, the referring clinician will be contacted.

Carrier testing

Carrier testing in children is generally to be avoided until the child is considered Gillick competent. Where it is necessary to exclude the child being affected, the report will not report the genotype but simply ‘unaffected’ if the child is a carrier or normal. The results will be recorded in the lab and be available to the child once they are able to consent.

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