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)
• 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)
• EGFR variantsgenomic DNA (WHO)
  • EGFR T790M gDNA (WHO)
  • EGFR L858R gDNA (WHO)

o   EGFR E746_A750del gDNA (WHO)

• In-development Reference Materials:
  • EGFR variants for liquid biopsy
  • Microsatellite Instability/Tumour mutational burden
  • Gene fusions for MRD AML
  • Copy number alteration (CNA)
  • MLH1/MSH2 Exon Copy Number Reference Panel for Lynch/HNPCC (Not-IVD)

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