Patent ID: 8637235
Filing Date: 2014-01-28
Classification: A61P,C12N,C12Q,G01N

Abstract:
1. A method, comprising: a) obtaining and analyzing a nucleic acid sample from a human patient having erythrocytosis, wherein the human patient having erythrocytosis has a hematocrit level of higher than 51%, wherein the analyzing comprises: a1) sequencing a region of the nucleic acid sample comprising position 2343 of SEQ ID NO: 2, or a2) hybridizing the nucleic acid sample with at least one probe comprising at least 10 consecutive nucleotides of SEQ ID NO: 2 comprising position 2343 of SEQ ID NO: 2 b) detecting the presence or absence of a thymine (T) in the JAK2 gene at position 2343 of SEQ ID NO: 2 in the nucleic acid sample; c) T is present at position 2343, treating the patient for polycythemia vera (PV) without quantifying red cell mass, quantifying erythroid endogenous colonies or testing bone marrow of the patient; and d) if T is absent at position 2343 of SEQ ID NO 2 without quantifying red cell mass, quantifying erythroid endogenous colonies or testing bone marrow of the patient.