PCD test provides definitive diagnosis of a rare disease: Joseph Maleszewski, M.D., and Marie-Christine Aubry, M.D.


Test in Focus

Primary ciliary dyskinesia (PCD) is a rare inherited disorder that can cause chronic coughing and frequent infections in the lungs, ears, throat and sinuses. In this "Test in Focus" episode of the "Answers From the Lab" podcast, Joseph Maleszewski, M.D., and Marie-Christine Aubry, M.D., explain how Mayo Clinic Laboratory can provide definitive diagnosis of primary ciliary dyskinesia (PCD).

"It's quite uncommon to encounter PCD, which is why getting the diagnosis right is so important," Dr. Maleszewski says. "Mayo Clinic is fortunate to have a team of seven pulmonary pathologists who are experts in this area."

Powerful electron microscopy is used to identify defects in cilia — the tiny, hair-like structures that help expel inhaled particulates. "Based on the morphological abnormalities we may see, we are able to make a definitive diagnosis of PCD," Dr. Aubry says.

Mayo Clinic has endorsed the standard diagnostic guidelines provided by the Primary Ciliary Dyskinesia Foundation (PCDF) and incorporated them into the laboratory's diagnostic reporting. "The center of excellence designation is a reflection of our testing and diagnostic acumen," Dr. Maleszewski says.

Listen to learn more about Mayo Clinic Laboratories' definitive diagnostic test for PCD.

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Testing

Useful information

Providing information to aid in the diagnosis of medical disorders such as storage diseases, CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy), and primary ciliary dyskinesia

Specimen requirements

  • Additional information:
    1. PATHC / Pathology Consultation may be added if deemed necessary by the reviewing pathologist.
    2. Liver/gastrointestinal and hair shaft specimens are not acceptable. Testing will be canceled if one of these specimen types is received.

Performance information

Analytic time: 5 to 10 days

Days performed: Monday through Friday

Additional testing

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Barbara J. Toman (@barbaratoman)

Barbara J. Toman

Barbara J. Toman is a Senior Communications Specialist at Mayo Clinic Laboratories. She is also the science writer for Mayo’s Neurosciences Update newsletter, which helps referring physicians to stay informed about Mayo’s treatment and research. Barbara has worked at Mayo Clinic since 2007. She enjoys international travel and cooking.