Sending Samples



All genetic testing requires consent; it is the responsibility of the referring clinician to obtain informed consent. By sending a sample to the laboratory it is understood that consent has been given for the test and DNA storage

Sample Types

Blood for karyotyping and FISH – 5ml in lithium heparin; > 0.5ml for neonates and infants
Mouthwash/buccal cells are suitable for some tests – please contact the laboratory for details
Bone marrow – using transport medium* or lithium heparin
Skin/other solid tissue biopsies (fresh) – using transport medium* or normal saline (sterile) – same day transit recommended
Fixed tumour tissue – send block or 1xH&E stained (tumour region marked & % tumour indicated) plus 4x10µm unstained slides
Prenatal – please contact the laboratory prior to sending:
Amniotic fluid – 15 to 20ml over 16 week gestation in sterile universal
Chorionic villus (CVS) – using transport medium* with 5ml in EDTA of maternal blood – same day transit recommended
Foetal blood – see Blood above
Products of conception (POCs) – small sub-sample only using transport medium* or sterile saline
Foetus – cord/peripheral blood in lithium heparin; skin/placenta/other tissue using transport medium* or sterile saline
Infant (sudden death) tissue biopsy – using transport medium* or sterile saline
*Transport medium (sterile universal container) is available from the laboratory – please contact for details
Please label each sample tube with three identifiers and the date of collection
Note: if patient has had a blood transfusion wait at least two weeks before taking the blood sample

Request Form

All samples must be accompanied by a request form with the following information clearly given:
Patient's full name
Date of birth
NHS number
Hospital number and/or genetics number
Name of referring clinician and hospital (no initials please)
Date sample taken
Clinical details and test required
Family history
Request forms are available from the laboratory on request or can be downloaded below:


All Samples must be packaged such that the patient confidentiality is maintained and leaks/contamination of courier is prevented; high risk samples, such as HIV or hepatitis B/C, must be clearly identified. First class post must be used for blood and fixed tissue samples; all other samples should be delivered by special arrangement. All packages must conform to current regulations on transport of biological samples - details of the current regulations can be found on the Health and Safety Executive's guidelines.
Send Samples to:
Sample Reception
Institute of Medical Genetics
Univeristy Hospital of Wales
Heath Park, Cardiff CF14 4XW      Tel: +44(0)2920 742641
Samples should arrive in the laboratory as soon as possible, ideally before 17:00 on the day of sampling. They can be refrigerated overnight if necessary but please do not freeze. Please not that the quality of extracted DNA will be affected if the sample is collected in the wrong anticoagulant/container, exposed to extreme temperature or delayed in transit - this may cause the test to fail. If molecular and cytogenetics tests are needed, separate EDTA and lithium hepatin samples are required, but they can be packaged together.

Last updated: 02/10/2013