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.

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 William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories. They discuss the latest news in pathogen activity and how these viruses serve as an important reminder of the role of the public-private lab partnership.

Their discussion includes:

• How the United States addresses emerging pathogens and the importance of a partnership between public health laboratories and private or clinical laboratories.
• Why access to testing is vital to prevent pathogen outbreaks and pandemics.
• The need for an effective legal framework around pandemic and hazard preparedness.
• Current diagnostic efforts around mpox, bird flu, and COVID-19, and opportunities to expand at-home testing.

Matthew Schultz, Ph.D., and Amy White, M.S., CGC, explain how Mayo Clinic Laboratories' unique urine assay (Mayo ID: SORD) screens for peripheral neuropathy arising from SORD gene variants. Although recently identified, SORD-related peripheral neuropathy is fairly common.

(00:31)
Would you share a little bit about yourself and your background?

(01:11)
Could you provide us with an overview of this particular peripheral neuropathy?

(03:09)
Can you share the background as to how your team learned about this condition and how you considered testing for it?

(04:42)

Would you explain what you saw when you performed the urine test on the first patient?

(05:26)
Were you able to test additional patients with this condition?

(06:09)

Could you expand on why this urine test is important?

(07:20)
How does a health care provider order urine testing for SORD deficiency?

(07:59)
How does this new SORD urine test complement the existing Mayo Clinic Laboratories test menu?

(08:55)

Could you summarize the benefits of ordering this SORD urine test at Mayo?