Table 4.
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.