This cascading reflex includes multiplex PCR and sequencing analysis for JAK2 mutations at codon 617 (exon 14) and exon 12, CALR frame shift mutations in exon 9, MPL mutations at codons 505 and 515 (exon 10), and CSF3R mutations in exons 14 and 17. The analysis includes all the currently well-characterized MPN-associated mutations in these genes.
Each mutation is essentially mutually exclusive in any given MPN case.2 Therefore, results are reported in a cascading manner (ie, detection of any MPN-associated mutation terminates data analysis/reporting of subsequent genes in the cascading reflex). For example, detection of JAK2 V617F mutation will result in a “Test not indicated/not reported” result for the other 4 analytes. The order of the reflex cascade is based on mutation frequency in MPNs; data are analyzed for genes in the following order: JAK2 (V617F), CALR, JAK2 (exon 12), MPL, and CSF3R.