cancer ss  const ss  prenatal ss  postnatal ss  postmort ss

 

Consent

Germline genetic testing:  Requires patient consent. Where consent is required, it is the responsibility of the clinician requesting the test to obtain this and it is assumed that this has been done if a sample is sent to the laboratory.
Somatic genetic testing:  Does not require documentation of consent as the primary aim of the test is to detect changes in the DNA or RNA that will inform the diagnosis, treatment and management of an individual patient’s cancer.
Most genetic testing involves ongoing storage of DNA/RNA and this should be discussed explicitly with patients.

 
Request forminformation
All samples must be accompanied by a request form with the following information clearly given:                                             
 
Patient’s full name
Date of birth
Hospital number and/or genetics number
Name of referring clinician and hospital (no initials please)
Date sample taken
Clinical details and test required
Relevant family history

 

Genetics Diagnostic Laboratory Request Form (Bloods samples)
Analyses offered external to Wales
 

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All of our cancer specific genetic requests forms are listed below. 
 
To find out more information regarding which form you require, please refer to our ‘Which genetic test do you require’ page.

 

Gene analysis of circulating tumour DNA (ctDNA) for NSCLC patients
RAS analysis of circulating tumour DNA (ctDNA) for CRC patients
Gene analysis using Next Generation Sequencing for patients with Myeloid Malignancies
NTRK analysis by FISH
Microsatellite marker analysis for CRC Patients
DNA / RNA NGS Analysis of Tumour Sample 
BRAF/MLH1 Follow-up Testing for CRC Patients
FISH Analysis of Sarcoma Sample
BRCA testing request form
 
Additional information regarding preparation of samples for RNA analysis can be found here.

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Rapid Whole Genome Sequencing
Developmental Disorders – Array CGH and Fragile X Test Request form
Referral for Cardiac Testing
NIPT Request Form for High Chance Combined/Quad Screening Result

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Packaging  
Samples must be packaged such that 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. All packages must conform to current regulations on transport of biological samples.
Send samples to:   
Sample Reception
All Wales Genomics Laboratory
Institute of Medical Genetics
University Hospital of Wales
Heath Park
Cardiff
CF14 4XW
Tel: +44 (0)2921842641                                    
 
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.
 
 

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Please note that the quality of the test 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 cytogenetic tests are needed, separate EDTA and lithium heparin (LiHep) samples are required, but they can be packaged together.

 

 

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Sample Type
Volume / Quantity and container information
 Time (max) sample is viable once taken
 Transport Requirements
 Conditions if stored prior to testing
DNA
 
Sealed tube; quantity depends on the testing requested No time limit Normal postage Fridge (4°C) not frozen
Blood for DNA (gene) analysis 4ml EDTA; 1ml for neonates and infants  5 calendar days Normal postage  Fridge (4°C) not frozen
Blood/ bone marrow for RNA molecular haematological testing 4ml EDTA 48 hours Urgent postage Room temperature, do not refrigerate
Blood for RNA analysis (non-haematological sample) 4ml EDTA – contact the lab prior to sending 48 hours Urgent postage Room temperature, do not refrigerate
Blood for array CGH 4ml LiHep and 4ml EDTA; 1ml for neonates and infants 5 calendar days Normal postage Fridge (4°C) not frozen
Blood for karyotyping and FISH 4ml LiHep; 1ml for neonates and infants 5 calendar days Normal postage Fridge (4°C) not frozen
Bone marrow for karyotyping/ FISH Transport medium*, sterile saline or 4ml LiHep 24 hours Urgent postage Fridge (4°C) not frozen
Blood for cell free DNA (cfDNA) i.e. ctDNA, ffDNA 10ml Streck© or 10ml CellSave© tube 96 hours Urgent postage Room temperature, do not refrigerate
Guthrie spot 4 spots No time limit Normal postage Room temperature
Mouthwash/buccal cells May be suitable for some tests – please contact the laboratory for details
Skin/other solid tissue biopsies (fresh) Transport medium* or sterile 24 hours Urgent postage Fridge (4°C) not frozen
Fixed tumour tissue for DNA analysis 1x H&E stained (tumour region marked & % tumour clearly indicated) and 6x10µM unstained sections on uncharged slides   No time limit Normal postage  Room temperature 
Fixed tumour tissue for FISH analysis 1x H&E stained (tumour region marked & % tumour clearly indicated) and 4x 3-4μM unstained sections (singly mounted) on charged/adhesion slides No time limit Normal postage Room temperature
 
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Sample Type Volume / Quantity and container information Time (max) sample is viable once taken Transport Requirements Conditions if stored prior to testing
Amniotic fluid 15 to 20ml over 16 week gestation in sterile universal 24 hours (same day transit recommended) Urgent postage Fridge (4°C) not frozen
Chorionic villus (CVS) Transport medium* with 4ml EDTA of maternal blood 24 hours (same day transit recommended) Urgent postage Fridge (4°C) not frozen
Foetal blood SEE RELEVANT INFORMATION ABOVE

 

  

 

 

 

 

 

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 Sample Type
 Volume / Quantity and container information
 Time (max) sample is viable once taken
 Transport Requirements
 Conditions if stored prior to testing
Products of conception (POCs) Small sub-sample only using transport medium* or sterile saline 5 calendar days Urgent postage Fridge (4°C) not frozen
Foetus Cord/ peripheral blood in 4ml LiHep; skin/ placenta/ other tissue using transport medium* or sterile saline 5 calendar days Urgent postage Fridge (4°C) not frozen
Infant (sudden death) tissue biopsy transport medium* or sterile saline 24 hours Urgent postage Fridge (4°C) not frozen

  

 

 

 

 

 

 

 

 

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