Experienced, expert evaluations

Optimized diagnosis of primary ciliary dyskinesia

For individuals affected by primary ciliary dyskinesia (PCD), a rare genetic condition with symptoms often mistaken for common respiratory infections, diagnosis can be challenging. But early identification of the disorder, which is characterized by defects in the form and/or function of the body’s cilia resulting in chronic otosinopulmonary disease and infertility in men,1 is critical to delay or prevent damage to the lungs. Accurate diagnosis can facilitate measures to keep the airways and lungs as healthy as possible.2

Mayo Clinic Laboratories’ PCD test offerings include both electron microscopy evaluation (EM) and genetic testing. Highly trained, board-certified pathologists perform our EM evaluation on biopsied nasopharyngeal or lung tissue samples to identify structural abnormalities and confirm diagnosis. Our genetic testing uses next-generation sequencing to detect genetic variations in 40 genes associated with PCD. All images and patient history are reviewed to assess for PCD characteristics, and interpretive reports are included with test results.  

Key testing

EM | Electron Microscopy, Varies

  • Aligns with current standard of care for diagnosis.
  • Provides information to aid in the diagnosis of PCD.
  • Includes interpretive report.
  • Results provided by telephone.

PCDGG | Primary Ciliary Dyskinesia Gene Panel, Varies

  • Analyzes 40 genes for disease-causing variants.
  • Provides information to aid in the diagnosis of PCD.
  • Includes interpretive report.

A Test in Focus

Joseph Maleszewksi, M.D., and Marie-Christine Aubry, M.D., explain how Mayo Clinic Laboratory can provide definitive diagnosis of primary ciliary dyskinesia (PCD). Mayo Clinic's expertise and technology have earned the laboratory's designation as the sole center of excellence for diagnosing this rare respiratory disorder.

Learn more

Partnering to improve diagnostic care

The Primary Ciliary Dyskinesia Foundation, a not-for-profit patient advocacy group founded in 2002, supports patients affected by PCD through access to information, resources, research, providers, and testing guidelines. Due to the rarity of PCD and general lack of awareness about symptoms, treatments, and testing, the PCD Foundation has designated Centers of Excellence to help patients access experienced, expert providers.

The PCD Foundation’s consensus recommendations for testing3 acknowledge that many physicians incorrectly diagnose PCD or eliminate the condition from a differential diagnosis. Further, due to inexperience with diagnostic testing methods, many patients often receive false positive or false negative test results.

To help its members access accurate, expert testing, the PCD Foundation has accredited Mayo Clinic Laboratories as the first PCDF-accredited diagnostic center in North America for electron microscopic diagnosis PCD. This designation can assist patients in accessing Mayo Clinic Laboratories testing to confirm disease diagnosis and establish long-term care.

As part of the relationship, Mayo Clinic Laboratories has endorsed testing and reporting guidelines set forth by the PCD Foundation and expanded our PCD test reporting to align with these recommendations.

Learn more about how to order this evaluation at your institution.

References

  1. Primary ciliary dyskinesia - About the Disease - Genetic and Rare Diseases Information Center (nih.gov)
  2. Primary Ciliary Dyskinesia - What Is Primary Ciliary Dyskinesia? | NHLBI, NIH
  3. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review (wiley.com)