Sample Requirements at Bristol Genetics Laboratory
Criteria for Acceptance and Rejection of Samples:
Please see North Bristol NHS Trust’s Request Form and Labelling Policy CG45 available at: https://www.nbt.nhs.uk/severn-pathology/requesting.See sections 6.3e and 7.6 for specific genetics comments.
Samples should be sent to the laboratory fully labelled 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, an accompanying request form, no indication of high risk and an 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 factors 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 the 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 transported to the laboratory within 24 hours of collection.
Samples must be sent in the required sample container (and designated preservative), at an appropriate temperature, packaged in a manner that ensures the integrity of the sample and the safety for the carrier, the general public and the receiving laboratory.
Samples must be packed and labelled according to appropriate regulations for the transport of goods, see https://www.royalmail.com/sites/default/files/Guidance-Document-Infectious-Substances-171012.pdf
|Sample Type||Size and Container||Comments
(Specific Requirements/Factors known to affect performance/interpretation)
Cytogenetics(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 Cells||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|
For QF-PCR, samples must arrive by 2:30pm for same day processing
|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.|
|Disease||Sample Type||Size and Container||Comments
(specific requirements/factors known to affect performance/interpretation)
|Cytogenetics (karyotype and FISH)||
Other haematological malignancies
3-5ml in lithium heparin
|Paediatric AML and ALL samples need to reach the laboratory within 72 hours|
Sterile heparinised bone marrow culture transport medium or lithium heparin
|Solid Tumour/Lymph nodes||Sterile tissue culture mediaorSterile normal saline (NOT formal saline)|
|Plasma cell disorders||Bone marrow||Sterile heparinised bone marrow culture in transport medium
|Sample should be taken from the first or second draw of the aspirate and should reach the laboratory within 48 hours of sampling|
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 and should be accompanied with an H&E slide with tumour rich area(s) marked|
|Blood/ bone marrow||5-10ml EDTA||Bone marrow is the preferred sample type for KIT exon 17 analysis in suspected systemic mastocytosis|
|Blood/bone marrow||5-10ml EDTA||These samples need to reach the laboratory within 72 hours|
|Molecular Pathology||Breast/ovarian cancer (hereditary)||Blood||3-5ml EDTA|
|Breast/ovarian cancer (hereditary)||FFPE tumour tissue||5 x 10µm sections “curls” in a clean universal|
|Lymphoma (clonality)||Blood/bone marrow||5-10ml EDTA|
|MRD studies (paediatric ALL)||Bone marrow||ACD tubes (yellow and black top)||DO NOT REFRIGERATE|
|Trephine||Sterile heparinised bone marrow culture in transport medium|
|Solid tumour (MGMT and MSI)||FFPE tumour tissue; >30% neoplastic cells||5 x 10µm sections “curls” in a clean universal|
|FFPE tumour tissue; <30% neoplastic cells||10 x 5µm slide mounted sections||H&E with regions of neoplastic cells highlighted|
|Solid tumour NGS panel
(Lung cancer, melanoma, colorectal cancer and
gastrointestinal stromal tumour)
|FFPE tumour tissue; >20% neoplastic cells||5 x 10µm sections “curls” in a clean universal|
|FFPE tumour tissue; <20% neoplastic cells||10 x 5µm slide mounted sections||H&E with regions of neoplastic cells highlighted|
|Other NGS panels||Blood||3-5ml EDTA|
- Available media: heparinised bone marrow culture transport medium, sterile tissue culture medium, tissue transport medium and CVS transport medium
- 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
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 tests.
In signing the referral form the clinician confirms that they have obtained consent for testing, storage and for the use of the 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. Huntington's disease may require a specific consent form.
Last updated: 26th April 2019