Bi-directional sequencing of exons 4-10 of the RUNX1 gene
RUNX1 mutations are reported in AML, treatment-related MDS, and in blast crisis CML. In AML patients with intermediate-risk cytogenetics, RUNX1 mutations are associated with poor prognosis including shortened overall survival and event-free survival. Germline RUNX1 mutations are known to cause familial platelet disorder with predisposition to AML.
Peripheral blood: 5 mL in EDTA tube. Bone marrow: 2 mL in EDTA tube.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen