Sample Handling Guidance

The guidance covers both rare disease and cancer sample requirements including blood, tumour and biopsy guidance.


For training in DNA extraction and sample processing, please visit the Genomics Education Programme website.

Using biobank consent

In the cancer programme, local biobank consent can be used for generic tissue, prior to participants being invited to join the 100,000 Genomes Project. Download the guidance.


Sample handling guidance v3.1 Jan 2017:

Full document

Contents and Version History
Chapters 1-5 Scope, Laboratory Accreditation, HTA and Precautions
Chapter 6 Rare Disease Sample Collection Specifications
Chapter 7 Cancer Sample Collection Requirements – Soild Tumour
Chapter 8 Haematological Cancer Sample Requirements
Chapter 9 Laboratory Sample Processing
Chapter 10 Sample Identification and data files
Chapter 11 Sample Transport to Biorepository
Chapter 12 Biorepository QC
Appendix A Summary of samples types including new Omics sample requirements
Appendix B Sample Collection Consumables
Appendix C Tissue Specific Guidance for FF tissue Sampling
Appendix D Diagnostic Biopsy Mobilisation Checklist
Appendix E Genomics England Accepted DNA Extraction Protocols from Optimised FFPE Samples
Appendix F Summary Table of Cancer DNA requirement
Appendix G Proforma for submissions of 20+ Stored Samples or outside normal criteria
Appendix H Checklist for producing CD138+ve enriched cells from bone marrow

More information

Data submission guides

Includes guides to LabKey, Open Clinica, BuRST messaging, UAT and more.


Frequently asked questions on eligibility, recruitment, consent, samples, results and analysis.

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