- Evidence of chronic sinopulmonary disease as indicated by symptoms and signs including a life-long, wet sounding cough and nasal symptoms, neonatal respiratory distress and chest radiograph with chronic abnormalities.
- With or without situs inversus totalis or heterotaxy
- With or without infertility
- If over 4 years of age nasal Nitric Oxide testing available
- With high-speed video analysis showing characteristic disordered ciliary motility, or absent cilia on repeat testing
- With transmission electron microscopy results available
Prior Genetic Testing:
- Results should have been reviewed for all genetic tests undertaken. This includes review of available exome sequencing data, but where this is the case can be limited to genes specified within disease-relevant in silico panels. The patient is not eligible if a pathogenic variant has been identified in any gene related to their phenotype.
- Standard local genetic testing and nationally commissioned testing for this phenotype should have been completed AND
- Testing should be undertaken for any individual gene for which diagnostic yield is >10% for this phenotype AND
- The following specific gene tests are advised as a means of limiting the re-discovery of recognised pathogenic variants that could be more efficiently identified through the existing catalogue of UKGTN tests:
- DNAH5, DNAH11, CCDC103, CCDC39, CCDC40, DNAI1
These requirements will be kept under continual review during the main programme and may be subject to change.« Back to Disease List