Molecular Genetics - Samples for Testing

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It is the responsibility of the patient's clinician to ensure that all requests meet testing criteria, that samples are correctly labelled and request Forms are completed.

 

In submitting samples the clinician confirms that consent for testing and storage has been obtained.

 

Request form

All samples must be accompanied by a request form which clearly states the following minimum criteria:

 

If you are sending in a sample from someone whose family members have been tested already, please include details of these individuals.

 

Download generic request form

 

NB. Some of our disorders require an additional form to be completed detailling the clinical features.  Please see the webpage specific to the disorder.

 

Samples

Samples must be labelled with:

 

Blood: Please send at least two 4ml EDTA blood samples (1ml minimum for neonates, 5-10ml for children and 10-20ml for adults). Please note:Transport samples at ambient temperature.  Blood samples in glass bottles are not accepted by the laboratory.

 

DNA: Please send a minimum of 5μg of DNA.

 

Other: In special circumstances, a saliva sample is acceptable. Please contact the laboratory for sample collection kits (Oragene).  User instructions for Oragene kits can be downloaded here

 

Please contact the laboratory prior to sending any other samples (e.g. paraffin-embedded tissue sections).

 

Postal Dispatch of samples

Blood samples should be received by our laboratory within 5 days of venesection.  Do not freeze blood samples – if storage is required prior to dispatch, blood samples can be stored at 4ºC (39.2ºF). 

 

Some tests require analysis of RNA from blood (detection of t(9;22) and cyclin D1 overexpression). Please contact the laboratory to arrange urgent transportation of these samples.

 

DNA samples can be sent at room temperature. 

 

Please send samples by first class post or courier.  Packaging should comply with UN3373 regulations for packaging and transportation of samples (See Table A4 in @biological agents: managing the risks in laboratories and healthcare premises' http://www.hse.gov.uk/biosafety/biologagents.pdf  In summary:

 

  1. The sample should be wrapped in enough tissue to absorb the entire contents of the tube in the event of a breakage. 

  2. Seal the tissue with tape and place it into a specimen bag and seal. 

  3. Samples should then be placed in a sample box or padded envelope along with a copy of the referral information and the package marked ‘Pathological Specimen – Fragile With Care’. 

 

Please send samples by first class post to:

Prof. Sian Ellard
Department of Molecular Genetics

RILD level 3
Royal Devon and Exeter NHS Foundation Trust
Barrack Road
Exeter, EX2 5DW

 

Click here for important information on sending high risk samples

Click here for information on cytogenetic referrals from within the RD&E