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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Kartagener syndrome


Other Names for this Disease
  • Dextrocardia bronchiectasis and sinusitis
  • PCD
  • Primary ciliary dyskinesia
  • Siewert syndrome
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Tests & Diagnosis

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How is Kartagener syndrome diagnosed?

Kartagener syndrome is typically suspected based on the presence of characteristic signs and symptoms. A diagnosis can be confirmed by examining a small sample of tissue (biopsy) from an area of the body known to have cilia such as the sinus cavities or the airway. Abnormalities in the structure of cilia, as seen in people affected by Kartagener syndrome, can be observed under a special microscope (called an electron microscope). If the disease-causing change (mutation) is known, genetic testing can also be used to confirm the diagnosis.[1][2][3]
Last updated: 2/1/2015

References
  1. Primary Ciliary Dyskinesia. NORD. June 2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/526/viewAbstract.
  2. Maimoona A Zariwala, PhD, FACMG, Michael R Knowles, MD, and Margaret W Leigh, MD. Primary Ciliary Dyskinesia. GeneReviews. February 2013; http://www.ncbi.nlm.nih.gov/books/NBK1122/.
  3. John P Bent lll, MD. Kartagener Syndrome. Medscape Reference. February 2014; http://emedicine.medscape.com/article/299299-overview.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Dextrocardia bronchiectasis and sinusitis
  • PCD
  • Primary ciliary dyskinesia
  • Siewert syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.