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Getting the Diagnosis
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Verifying the diagnosis of PCD is a major challenge that causes significant frustration for families and medical professionals.  For now, the ‘gold standard’ for PCD diagnosis is a labor and technology-intense ciliary biopsy that often returns inconclusive or unsatisfactory results.  Tremendous progress has been made in identifying genetic mutations responsible for the ciliary dysfunction seen in PCD.  We anticipate that a comprehensive genetic test for the diagnosis of PCD will be available within the next few years, in addition to the standard ciliary biopsy.

Click here for detailed information on the current diagnostic process for PCD.