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 available at: https://www.nbt.nhs.uk/severn-pathology/requesting.See sections 6.3e and 7.6 for specific genetics comments.

Minimum requirements

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.

Generally:

  • 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

Constitutional
Postnatal Diagnosis
    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
Neonate/Child Blood 1-2ml EDTA

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.
Array CGH request should preferably be accompanied by blood samples from both parents (EDTA).

  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 Genomics
  Disease Sample Type Size and Container Comments
(specific requirements/factors known to affect performance/interpretation)
Cytogenetics (karyotype and FISH)

ALL

AML

CLL

CML

MDS

MPN

Other haematological malignancies

Blood

3-5ml in lithium heparin

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

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
or
lithium heparin
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
AML

CLL

MPN

TL-DS/ML-DS (GATA1)

Blood/ bone marrow 5-10ml EDTA Bone marrow is the preferred sample type for KIT exon 17 analysis in suspected systemic mastocytosis
BCR-ABL1 qualitative/
quantitative assays
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  

 

Transport media

  • 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

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 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: 11th September 2018