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. 2014 Mar;11(3):351–359. doi: 10.1513/AnnalsATS.201306-194OC

Table 4.

Categorization of patients with primary ciliary dyskinesia based on diagnostic modality

  Diagnostic Ciliary Biopsy Noncontributory Ciliary Biopsy Totals
Diagnostic molecular genetics* >14 >8 >22
Nondiagnostic molecular genetics >14 >16 >30
Total >28 >24 >52

Molecular genetic analysis was conducted on the following genes: DNAH5, DNAI1, CCDC39, CCDC40, DNAI2, DNAH11, RSPH9, RSPH4A, DNAAF1, DNAAF2, TXNDC3, DNAL1.

*

Includes biopsies that were normal, inconclusive, inadequate, or not done.

Two pathogenic mutations in a single primary ciliary dyskinesia gene.