JAK2 p.Val617Phe (V617F) Mutation Status (Accredited)

The discovery of the gain of function variant JAK2 V617F in 2005, revolutionised the diagnosis of myeloproliferative neoplasms (MPNs). The substitution of Valine to Phenylalanine results in the loss of the inhibitory effect of the JH2 domain, resulting in growth factor-independent clonal expansion. The V617F variant can be found in 95% of Polycythaemia Vera and 50% of both Essential Thrombocythaemia and Primary Myelofibrosis.

In this programme, participants are provided with lyophilised cell-lines for JAK2 V617F mutation status analysis. The material supplied must only be used for EQA purposes. Instructions for storage, reconstitution and use of the lyophilised samples are included with the samples. Participants are asked to submit qualitative results, together with details of the methodology. Whilst performance monitoring is based on qualitative results, there is also the option to submit quantitative data.

JAK2 V617F quantification is becoming more important in the diagnosis and monitoring of MPNs. From May 2021, data analysis and reporting were amended for JAK2 V617F quantification data, with a switch from medians and centiles to robust means and SDs. This allows the calculation of z-scores, in line with established quantitative programmes. Currently this analysis is provided for educational purposes only.  It is envisioned that future performance monitoring for quantification will not be mandatory but performed only for participants that actively request it.

Three trials are issued per annum, with each trial consisting of two samples, covering a wide range of allelic burdens.  JAK2 V617F, if present, should be expected at 'diagnostic' levels, although periodically low level 'MRD' samples may be dispatched as additional educational samples. 

***New for 2024-2025***

As panel testing of JAK2, CALR and MPL becomes more prevalent in the diagnosis of myeloproliferative neoplasms, UK NEQAS LI has begun the process of merging the current JAK2 p.Val617Phe Mutation Status and MPN Diagnostic Testing Programmes to provide a more cost effective service whilst maintaining the rigour of the current programmes. It is intended that this process will be completed for the 2024-2025 registration period; further information will be provided in due course.

No activities in relation to this EQA programme are subcontracted.

To register for this programme, please click here.