The Science of Diagnosing Rare Platelet Disorders: Dong Chen, M.D., Ph.D.

In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, is joined by Dong Chen, M.D., Ph.D., chair of the Division of Hematopathology in the Department of Laboratory Medicine and Pathology at Mayo Clinic. They discuss rare and inherited platelet disorders and esoteric laboratory testing of hematologic disorders.

Specific topics of discussion include:

• How these rare disorders are diagnosed through laboratory tests.
• Why platelet transmission electron microscopy is considered the gold standard for diagnosing disorders like Hermansky Pudlak syndrome, Wiskott-Aldrich syndrome, Chediak Higashi syndrome, and Jacobson/Paris-Trousseau syndrome.
• The process involved with developing and validating the PTEM test (Mayo ID: PTEM) at Mayo Clinic.
• The importance of ongoing research and advocacy to enhance care for patients with rare platelet disorders.