Sample Requirements

Sample referrals

All samples should be accompanied by a Human Genetics request form, which can be downloaded from NHS Tayside Intranet either via the Human Genetics website, or from the Human Genetics section of Clinical Pathways/Information. It is also available on the Human Genetics Unit website hosted by the University of Dundee.

It is the duty of the clinician/or other health professional to obtain consent from the patient (or patient’s representative) for genetic testing to be carried out. In submitting a sample, the clinician confirms that consent has been obtained: (a) for testing and storage, (b) for the use of this sample and the information generated from it to be shared with members of the patient’s family and their healthcare professionals (if appropriate).

The following information must be supplied legibly with each sample:

  • Patient’s surname and forename (on sample and form)
  • Patient’s date of birth and gender or CHI (on sample and form)
  • Name and address of the healthcare professional requiring report (on form)
  • Analysis requested and reason for request (on form)

NB: Samples received without this information may be rejected. The patient postcode should also be provided as this is necessary for our records and external invoicing.

If you are sending in a sample from an individual with a known family history please provide specific details of any known index case and mutation details if available.

Please note that additional forms are required to be completed for some conditions eg breast and colon cancer, diabetes studies, familial hypercholesterolaemia, HOCM, and long QT syndrome. Please contact the Dundee Molecular Genetics Laboratory for details. Information can also be found on Staffnet at:

Sample types

Please see section “Laboratory Repertoire” for sample details for each condition. If in doubt, please contact the laboratory.

NB: Clotted samples are not suitable for DNA/RNA extraction

Specimen Collection:

Sample containers must be securely capped after filling

Sample containers must not show visible external contamination by biological materials

Sample containers must be well mixed to prevent clotting. Immediately after collection, gently invert each blood tube several times to distribute the EDTA throughout the sample.

High Risk Specimens

Blood samples and request forms from the following patients should be clearly marked as High Risk:

Suspected or confirmed HepB/C antigen-positive patients

Suspected or confirmed HIV positive patients

Intravenous drug users

For high-risk samples, a mouth wash is preferable to a blood sample although this may not be suitable for all analyses – please contact the laboratory for advice, prior to sampling.

Please note the laboratory does not have the containment facility to handle samples from individuals with confirmed or suspected prion diseases (eg vCJD) and tuberculosis. These samples will be discarded by the Laboratory.

Sample transport

Samples sent through the internal mail systems should be placed in sealed plastic bags, with the accompanying form in a separate compartment and folded to display the lab address clearly without exposing patient details.

To send blood samples through the post, Royal Mail approved packaging must be used. This is available from the laboratory on request. All samples should be sent to the address shown on the front cover of this manual. Samples from NHS Highland are delivered either by DX Couriers or Royal Mail. Microbiology maintains a generic policy for van transport (NB141) of samples between PRI and Ninewells, with Genetics and other laboratories as copyholders.

For optimum DNA/RNA extraction:

Blood and saliva samples should preferably be received by the laboratory within 3 working days of being taken and stored in the fridge prior to sending.

Blood samples for BCR-Abl testing should be collected in EDTA and should be received by the laboratory within 24hrs of sampling.

Urine samples should preferably be received by the laboratory within 48hrs of sampling.

Fresh tissue should be sent in appropriate transport media; please contact the laboratory for information.

Please note that DNA/RNA quality may be affected by delays in transit which may compromise the testing.

Sample storage

Most DNA/RNA samples will be stored indefinitely unless otherwise requested. Please contact the laboratory for details.

Please note additional testing may be requested at any time (i.e. no time limit) on stored samples by contacting the Duty Scientist e-mail account This is dependent on the quality/quantity of remaining archived sample.