NEW YORK (GenomeWeb) – Qiagen said yesterday that it has received US Food and Drug Administration Clearance for its Ipsogen JAK2 RGQ real-time PCR kit to aid in the diagnosis of the blood cancer polycythemia vera.
The qualitative in vitro diagnostic test runs on Qiagen's Rotor-Gene Q MDx system and is designed to qualitatively detect the JAK2 V617F/G1849T allele in genomic DNA extracted from EDTA whole blood.
Qiagen said that its test is the only FDA-cleared assay for this mutation, which is found in nearly all patients with polycythemia vera, according to the 2016 World Health Organization classification of myeloid neoplasms. About 9,000 new PV cases are diagnosed annually.
Qiagen noted that the assay is intended for use as an adjunct to evaluation of suspected PV, in conjunction with other clinicopathological factors. This test does not detect less common mutations associated with the disease, including mutations in exon 12, and is not intended for standalone diagnosis of PV.
The clinical performance of the assay was evaluated during a multicenter, international, prospective, interventional study that demonstrated sensitivity of 94.6 percent and specificity of 98.1 percent for the diagnosis of PV, together with a 100 percent positive agreement and 99.4 percent negative agreement with bi-directional sequencing.
Separately today, French immuno-oncology diagnostic firm HalioDx said that it performed feasibility testing and development of the assay, including the aforementioned clinical validation, on behalf of Qiagen. HalioDx said the validation study enrolled patients at seven sites in the US, 12 sites in France, and five sites in Italy.
The Ipsogen JAK2 assay is already available in Europe and other markets, Qiagen said. Its availability in the US will "make it easier for hematologists and oncologists to follow recommended diagnostic testing algorithms and international guidelines for suspected PV patients," Thierry Bernard, senior vice president and head of Qiagen's molecular diagnostics business, said in a statement.