Appeal type: Medical necessity
Decision: Upheld

Diagnosis: 	Chronic mild leukemia

Treatment: CPT code 81270 (JAK2 Gene Testing)

The insurer denied coverage for CPT code 81270 (JAK2 Gene Testing). The denial is upheld. 

This patient is a female who was evaluated for her chronic mild leukemia. The patient's labs showed low white blood cell count of 3.6 (normal range of 4-10K/uL) but otherwise normal blood cell counts. The patient's red blood cell count was 4.62, hemoglobin was 13.5 and platelet count was 233, which were all within normal limits. The plan was to do screen the patient for viral infection (hepatitis), and perform serum protein electrophoresis, serum free light chains, peripheral blood for flow cytometry and peripheral blood for next generation screening. The patient received JAK2 Gene Testing.
According to Xia & Hasserjian (2016), "Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are myeloproliferative neoplasms characterized by recurrent somatic mutations in JAK2, CALR, and MPL. This short review addresses (1) the spectrum of mutations seen in PV, ET, and PMF, (2) the emerging genotype-phenotype correlations, (3) the current role of molecular testing in disease classification and management, and (4) several important considerations for selecting an appropriate molecular test. In our view, sequential testing algorithms and simultaneous assessment of multiple mutations by next-generation sequencing are both valid approaches to testing." 
As per Schieber, Crispino, & Stein (2019), "Myelofibrosis (MF) is a myeloproliferative neoplasm characterized by ineffective clonal hematopoiesis, splenomegaly, bone marrow fibrosis, and the propensity for transformation to acute myeloid leukemia. The discovery of mutations in JAK2, CALR, and MPL has uncovered activated JAK-STAT signaling as a primary driver of MF, supporting a rationale for JAK inhibition. However, JAK inhibition alone is insufficient for long-term remission and offers modest, if any, disease-modifying effects. Given this, there is great interest in identifying mechanisms that cooperate with JAK-STAT signaling to predict disease progression and rationally guide the development of novel therapies."
"Myelofibrosis (MF) is a myeloproliferative neoplasm characterized by ineffective clonal hematopoiesis, splenomegaly, bone marrow fibrosis, and the propensity for transformation to acute myeloid leukemia. The discovery of mutations in JAK2, CALR, and MPL has uncovered activated JAK-STAT signaling as a primary driver of MF, supporting a rationale for JAK inhibition. However, JAK inhibition alone is insufficient for long-term remission and offers modest, if any, disease-modifying effects. Given this, there is great interest in identifying mechanisms that cooperate with JAK-STAT signaling to predict disease progression and rationally guide the development of novel therapies."
Based on literature review, JAK2 genetic test is clinically indicated if there is evidence of elevated hemoglobin/red blood cell count, or if the platelet count is elevated. In this case, there is no indication of polycythemia, or essential thrombocytopenia, or myelofibrosis for this patient. The patient's red blood cell count of 4.62, hemoglobin level of 13.5 and platelet count of 233 are normal on lab test. Therefore, CPT code 81270 (JAK2 Gene Testing) performed is not considered medically necessary for this patient.

The health plan acted reasonably with sound medical judgment, and in the best interest of the patient. 

The carrier's denial of coverage for CPT code 81270 (JAK2 Gene Testing) performed is upheld. The medical necessity is not substantiated.