Sample Requirements at Bristol Genetics Laboratory

Download the Bristol Genetics Laboratory request form PDF.

(Guide for how to fill in the request form)

Criteria for Acceptance and Rejection of Samples:

Please see North Bristol NHS Trust’s Request Form and Labelling Policy CG45.See sections 6.3e and 7.6 for specific Genetics comments

Minimum requirements

Samples should be sent to the laboratory fully labelled in a safe manner. Samples should be in a separate transport bag with the completed request form attached. Samples can only be accepted for routine processing if there is no leakage, correct labelling, accompanying request form, no indication of high risk and appropriate container used. Rejection of samples will depend on:-

  • Ability to obtain a repeat sample e.g. histology samples
  • The health risk to staff – the laboratory operates at containment level 2+
  • Ability to correctly identify the patient

Any specific requirements are listed in the ‘Comments’ column of the table below along with any actors known to affect performance or interpretation of the assay.


  • Molecular Genetics Tests require EDTA tubes
  • Cytogenetic Tests require Lithium Heparin tubes
  • Blood should be kept at room temperature or at 4oC and must not be frozen before dispatch

Rotate sample tube gently to ensure blood does not clot. If several tests are required please give consideration to priority of tests if only a small sample is obtained.

For optimal results, samples should be dispatched to arrive at the laboratory within 24 hours of sampling.

Postnatal Diagnosis
    Sample Type Size and Container


(Specific Requirements/Factors known to affect performance/interpretation)


(karyotype and FISH)
Adult Blood 3-5 ml Lithium Heparin  
Neonate/Child Blood 1-2 ml Lithium Heparin For QF-PCR, samples must arrive by 2:30pm for same day processing
Fanconi Anaemia, Ataxia Telangiectasia, Bloom syndrome Blood 5-7ml Lithium Heparin  
  Buccal Cell Buccal brush – please contact the laboratory for details Brushes should be re-sheathed and sent dry (not in saline).
Molecular Genetics Adult Blood 3-5ml EDTA An aliquot of DNA can be sent to a laboratory for genetic analysis if a clinical letter of referral has been provided or other appropriate details given on the referral form
Neonate/Child Blood 1-2ml EDTA

For QF-PCR, samples must arrive by 2:30pm for same day processingArray CGH request should preferably be accompanied by blood samples from both parents (EDTA)

  Saliva Oragene kit – please contact the laboratory for details  

Prenatal Diagnosis Samples must arrive by 2.30pm for same day processing.

    Amniotic Fluid 12-15ml clear fluid > 15 weeks gestation in a sterile Universal


Information regarding the disease causing mutation(s) in the family must be known and family workup undertaken prior to prenatal analysis. Please contact the laboratory when the clinic appointment is confirmed and indicate which clinician will be giving the patient the result.

  CVS 10-25mg in CVS transport media
  Foetal Blood Sample

0.5-1.0ml Lithium Heparin and/orat least 1.0ml EDTA

  Skin/other tissues/Placenta/POC Tissue transport media or sterile saline Samples received in formal saline/formalin are unsuitable for culture and will be discarded.
Oncology Genetics
  Disease Sample Type Size and Container Comments
Cytogenetics (karyotype and FISH)







Other haematological malignancies

Bone marrow

Sterile heparinised bone marrow culture transport mediumorLithium Heparin

Paediatric AML and ALL samples need to reach the laboratory within 72 hours

2-10ml in Lithium Heparin

  Solid Tumour/Lymph nodes Sterile tissue culture mediaorSterile normal saline (NOT formal saline)  

FFPE FISH: Lymphoma Sarcoma Lung Cancer (ALK) Oligodendroglioma/ Oligoastrocytomas (1p/19q) Other Tumour

Formalin Fixed Paraffin Embedded (FFPE)

2 x 4µm slide mounted sections

FFPE sections should be mounted on labelled “sticky”/APES (silinated) slides

Breast Cancer samples for HER2 FISH

FFPE 2 x 4µm slide mounted sections These should not be more than 3 days old and should be accompanied by a marked Herceptest slide
Molecular Pathology  

Bone marrow

Sterile heparinised bone marrow culture transport mediumorLithium Heparin

  Blood 2-10ml EDTA  
CML Blood 2-10ml EDTA These samples need to reach the laboratory within 72 hours
Lymphoma (Clonality)   5 x 10µm sections in a clean universal “curls” Clonality studies

Solid Tumour (EGFR/BRAF/MGMT)

>50% tumour 5 x 10µm sections in a clean universal “curls”  
>50% tumour 10 x 5µm slide mounted sections H&E with regions of >30% tumour highlighted

Cytology specimens

Either sections from paraffin embedded cell blocks or slide-mounted alcohol-fixed cell smears accepted % tumour nuclei must be over 15%
ALK FISH FFPE   See FFPE FISH section above

MRD studies

Bone Marrow ACD tubes (yellow and black top) DO NOT REFRIGERATE
Trephine Sterile heparinised bone marrow culture transport medium  


Heparinised bone marrow culture transport medium, sterile tissue culture media, tissue transport media and CVS transport media:

  • This is available from the laboratory by arrangement
  • The transport medium should be stored frozen and must be defrosted completely before use
  • The expiry date is indicated on the bottle

Consent statement

It is the referring clinician’s responsibility to ensure that the patient/carer knows the purpose of the test and that the sample may be stored for future diagnostic test.

In signing the referral form, the clinician has obtained consent for testing, storage and for the use of this sample and the information gathered from it to be shared with members of the donor’s family through their health professionals (if appropriate). The patient should be advised that the sample may be used anonymously for quality assurance and training purposes.

Please advise us of any restrictions (if the patient does not wish for information to be shared please write this clearly in the clinical summary box). Certain disorders with particular counselling issues e.g. HD may require a specific consent form.

Last updated: 5th May 2017