Detecting the presence of the Philadelphia chromosome (fusion of the BCR gene on Chromosome 22 to the ABL1 gene on chromosome 9) is essential in the diagnosis of Chronic Myeloid Leukaemia and initiation of Tyrosine Kinase Inhibitor (TKI) therapy. Acute Myeloid Leukaemia is a heterogeneous group of disorders that can be classified with the aid of molecular abnormalities. The ability to determine the presence of translocations that result in fusion oncogenes is essential in the prognosis of AML.
In this programme participants are provided with lyophilised cell-lines for t(9;22) (BCR-ABL1 Major and Minor breakpoints), t(8;21) (AML1-ETO or RUNX1-RUNX1T1) and t(15;17) (PML-RARα) analysis. All samples mimic diagnostic specimens and are therefore not suitable for Minimal Residual Disease MRD monitoring analysis. Participants are asked to submit qualitative results together with details of the methodology. Instructions for storage, reconstitution and use of the lyophilised samples are included with the samples. Three send-outs are issued per annum, with each send-out consisting of two samples, one for the BCR-ABL1 analysis and one for AML translocation analysis.
Pre issue testing of samples for this programme is subcontracted, although the final decision about sample suitability lies with the EQA provider; no other activities in relation to this EQA programme are subcontracted.