Genomic Reference Materials

NIBSC is the world’s primary producer of World Health Organization (WHO) international standards for human genomic diagnostics, and is the only European producer of human genomic DNA reference materials for in vitro diagnostic use.

Our standards

Click on the links below for further information, or to order. 

Reference materials for cancer genomics

•  BCR-ABL1 (WHO)
• JAK2 V617F (WHO)
• KRAS codons 12 and 13 (WHO)
• Lynch/HNPCC(MLH1/MSH2; CE) also known as MLH1/MSH2 Exon Copy Number Reference Panel
• Pan Cancer Genomes (WHO)
  • ATDB102 Reference Genome 2019 (WHO) also known as ATDB102 Reference Genome (WHO)
  • HCT 15 Cancer Genome 2019 (WHO) also known as HCT 15 Cancer Genome (WHO)
  • MOLT-4 Cancer Genome 2019 (WHO) also known as MOLT-4 Cancer Genome (WHO)

• Proposed first WHO International Standards for EGFR variants

• In-development WHO standards (ctDNA, EGFR variants, microsatellite instability 

Reference materials for inherited disorders

•  Factor V Leiden (WHO)
•  Factor VIII intron 22 inversion (Haemophilia A; WHO)
•  Prothrombin G20210A (Factor II; WHO)
•  Fragile X (WHO)
•  Prader Willi and Angelman Syndromes (WHO)

Other genomic reference materials

•  RhD/SRY Plasma DNA (WHO)
•  Red Blood Cell Genotyping (WHO)
  
•  NGS Validation Challenge Samples

More information

NIBSC produces reference materials for human nucleic acid -based diagnostics where there is strong evidence of need. These control materials are produced as either WHO international standards or as CE-marked reference materials.

As higher order materials, WHO international standards are suitable for in vitro diagnostic use worldwide. These primary standards support genomic diagnostics as they can be used to calibrate diagnostic assays, kits, and secondary standards.

CE-marked reference materials are prepared under ISO 13485 for in vitro diagnostic use in Europe and are available as ‘research-use only’ world-wide. They may be used as routine ‘run-controls’ in Europe, and may be used globally for assay development, validation, and trouble-shooting. CE-marked reference materials are available for Lynch syndrome (HNPCC).

Our genomic reference materials are prepared from cell lines established from patients, and not genetically manipulated to artificially re-create mutations. As such, our reference materials are unmodified and do not harbour bacteriophage recombinase recognition sequences, so fully mimic patient DNA.

The materials are produced as single, large, well-characterised batches, assuring consistent high quality and highly reproducible performance between samples.

Our reference material panels for human genetic diagnostics are typically genomic DNAs extracted from patient-derived cell lines. These materials are either freeze-dried in glass ampoules or liquid genomic DNA for storage at -70°C.

All genomic reference materials are supplied on a not-for-profit basis.