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

8

profiles for the evaluation of benign hematologic disorders

7

next-generation sequencing panels specifically created for benign hematology

400+

hemoglobin variants identified with our laboratory testing, with over 45 first described by Mayo Clinic

Benign hematology evaluations

EEEV1 | Red Blood Cell (RBC) Enzyme Evaluation, Blood

  • A focused evaluation of hemolytic anemias caused by underlying red blood cell (RBC) enzyme defects.

HAEV1 | Hemolytic Anemia Evaluation, Blood

  • 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.

HBEL1 | Hemoglobin Electrophoresis Evaluation, Blood

  • 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.

HGBCE | Hemoglobin Variant, A2 and F Quantitation, Blood

  • Monitors patients with previously confirmed Hb variant.

MEV1 | Methemoglobinemia Evaluation, Blood

  • Evaluates patients with unexplained cyanosis or when methemoglobinemia or pesticide exposure is suspected.

RBCME | Red Blood Cell Membrane Evaluation, Blood

  • Evaluates patients for suspected red cell membrane disorders, such as hereditary spherocytosis or hereditary pyropoikilocytosis.

REVE2 | Erythrocytosis Evaluation, Blood

  • Evaluates patients for hereditary (congenital) causes of erythrocytosis. Symptoms should be long-standing or familial in nature.

THEV1 | Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

  • 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).

Benign next-generation sequencing assays

Key test

NHHA | Hereditary Hemolytic Anemia Gene Panel, Next-Generation Sequencing, Varies

  • Comprehensive panel evaluates genes associated with hereditary (congenital) causes of hemolytic anemia. Symptoms should be long-standing or familial in nature.

Additional testing

NCDA | Congenital Dyserythropoietic Anemia Gene Panel, Next-Generation Sequencing, Varies

NCYB | Recessive Congenital Methemoglobinemia, CYB5 and CYB5 Reductase Genetic Analysis, Next-Generation Sequencing, Varies

NENZ | Red Blood Cell Enzyme Disorders Gene Panel, Next-Generation Sequencing, Varies

NHEM | Hereditary Erythrocytosis Focused Gene Panel, Next-Generation Sequencing, Varies

NHEP | Hereditary Erythrocytosis Gene Panel, Next-Generation Sequencing, Varies

NMEM | Red Blood Cell Membrane Disorders Gene Panel, Next-Generation Sequencing, Varies

Specialized clinical decision-making

Hematopathologists Jennifer Herrick, M.D., James Hoyer, 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.

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Resources

Testing brochure

Request form

Evaluation comparison

Learn more about how to order these evaluations at your institution.

Additional resources

Earn Extra Credit by Attending Mayo Clinic Laboratories’ Hematology Conferences

On Oct. 6‒8, 2021, Mayo Clinic Laboratories is hosting its 17th Bleeding and Thrombosing Diseases Conference and Workshop, and on Oct. 8-9, 2021, we’re also hosting a Non-Malignant Hematology Conference. Both conferences will be held in-person in Rochester, Minnesota, and also live-streamed online.

By Cory Pedersen • July 19, 2021
Osmotic fragility testing

In this month’s “Hot Topic,” James Hoyer, M.D., discusses the importance of using a control tube during osmotic fragility testing.

By Samantha Rossi • December 2, 2020
Erythrocytosis

This "Specialty Testing" webinar explains the causes of hereditary and acquired erythrocytosis, discuss methods for diagnosis, and share cases for illustration.

By MCL Education • April 11, 2018