We’re looking for participants to join an international study evaluating the performance of the materials across a range of methods.
Participants should routinely perform quantitative testing for at least one of the clinically-relevant variants (PIK3CA p.E454K, TP53 p.R306*, NRAS p.G12C, PTEN p.K267fs*9, and MAP2K1/MEK1 p.D67N), for example by digital PCR or next-generation sequencing, and be able to evaluate the materials in October-November 2018. Your results will support the assignment of consensus values for the (predicted) clinically-relevant variants, and provide a large dataset for additional other variants.Contribution to the assessment of these materials would be acknowledged in the WHO report for these standards and in any resulting publications.
If you’d like to participate in this important standardisation initiative, please contact Pia.Sanzone@nibsc.org.
Recruitment closing date: 21 September 2018.
Dr Jennifer Boyle – Senior ScientistDr Pia Sanzone – Senior Scientist
09/138 : BCR-ABL (WHO)16/120 : JAK2 V617F (WHO)16/250 : KRAS codons 12 and 13 (WHO)11/218: Lynch/HNPCC (MLH1/MSH2; CE) 04/224 : Factor V Leiden (WHO)08/160 : Factor VIII intron 22 inversion (WHO) 05/130: Prothrombin G20210A (Factor II; WHO)08/158: Fragile X (WHO) 09/140: Prader Willi and Angelman (WHO)07/222: RhD/SRY Plasma DNA (WHO)11/214: Red Blood Cell Genotyping (WHO)
Further information on ordering genomic reference materials from NIBSC may be found here.