Hematology – Featured

In a recent discovery by Mayo Clinic Laboratories, a novel hemoglobinopathy category was identified and termed epsilon gamma thalassemia. The first instance of the disorder was found in 2017 when an obstetric patient underwent a routine screening for blood-related illnesses such as sickle cell disease and thalassemia. Upon completion of additional tests, doctors found an abnormality they had never seen before.

In this month's "Hot Topic," David Viswanatha, M.D., discusses updates to Mayo Clinic's next-generation sequencing (NGS) for myeloid neoplasm evaluation, involving new test targets, the rationale for new genetic regions, alignments with the World Health Organization (WHO) guidelines and germline predisposition targets.