Providing an accurate
diagnosis for patients
Testing to diagnose and manage red blood cell abnormalities
Mayo Clinic’s Metabolic Hematology Laboratory is dedicated to providing accurate diagnoses and clinical interpretations for your patients.
Because the incidence of distinct red blood cell disorders can vary from common to rare, our cases are signed out by board-certified hematopathologists who:
- Use comprehensive, reflexive algorithmic panels to help guide appropriate laboratory testing choices and minimize unnecessary assays
- Take the time to address all testing needs and do what’s medically right for every patient
- Collaborate with other experts across Mayo Clinic to perform a full range of testing approaches and capabilities
For hematologists whose patients require only a single test, many components of our specialized evaluations can be ordered individually.
By the numbers
profiles for the evaluation of benign hematologic disorders
hemoglobin variants identified with our laboratory testing, with over 45 first described by Mayo Clinic
next-generation sequencing panels specifically created for benign hematology
Our benign hematology evaluations
Incorporates all testing related to nonimmune hemolytic anemia, including assays for unstable hemoglobin variants, red blood cell enzyme abnormalities, and red blood cell membrane disorders. It assumes a previous negative direct antiglobulin test (DAT) result.
A reflexive evaluation for the identification of hemoglobin variants and beta thalassemias. The degree and complexity of testing is determined by the nature of the case, including the rarity of the hemoglobin variants present.
Evaluates patients with unexplained microcytosis, suspected alpha thalassemia, or complex hemoglobinopathy/thalassemia disorders undetectable by electrophoresis alone. This evaluation also detects hemoglobin variants responsible for microcytosis (e.g., hemoglobins E or Lepore).
A focused evaluation of hemolytic anemias caused by underlying red blood cell (RBC) enzyme defects.
Evaluates patients with unexplained cyanosis or when methemoglobinemia or pesticide exposure is suspected.
Evaluates patients with unexplained erythrocytosis and a negative JAK2 V617F result.
Recommended for patients presenting with lifelong erythrocytosis in whom a high-oxygen hemoglobin variant has been excluded by a normal p50 result, electrophoresis, and/or alpha and beta globin gene sequencing (see REVE and HBELC).
Enables detection of small paroxysmal nocturnal hemoglobinuria (PNH) populations in early PNH and in patients with bone marrow failure syndromes (aplastic anemia and myelodysplasia).
Specialized clinical decision-making
Hematopathologists James Hoyer, M.D., Jennifer Oliveira, M.D., and Aruna Rangan, M.B.B.S., lead a team with unparalleled depth and breadth of expertise in hemoglobin and red cell disorders. Mayo Clinic’s Metabolic Hematology Laboratory has identified more than 400 hemoglobin variants and described more than 45. The lab’s diagnostic genetic testing results are evaluated by board-certified genetic counselors who specialize in translating genetic information into clinical contexts. Our genetic counselors make their clinical decisions by focusing on the utility and limitations of specific genetic testing methods, familial genetic testing strategies, and genetic variant interpretation, and by identifying potential reproductive risks associated with a test finding.
Webinar — Erythrocytosis
The underlying causes of erythrocytosis (high hemoglobin/hematoctrit) have been progressively elucidated in recent years. The identification of the underlying causes has assumed greater importance with the identification of the JAK2 V617 mutation found in polycythemia vera and other myeloproliferative neoplasms.
Learn more about how to order these evaluations at your institution.