Summary of the Task Force consensus on the published evidence on genetic testing in primary ciliary dyskinesia (PCD) diagnostics
| Whilst further evidence in a diagnostic setting is required, experts of the Task Force agreed: |
| 1. Genetic testing to confirm diagnosis can be performed in PCD individuals diagnosed by other means (e.g. HSVA, TEM, IF) or in individuals with high clinical suspicion for PCD (typical clinical findings, low nNO) and no availability of other investigations, such as HSVA, TEM or IF. A negative genetic test does not exclude PCD. |
| 2. Genetic testing can also be performed to establish diagnosis in patients highly suspected of PCD and in whom HSVA, TEM or IF failed to confirm the diagnosis, as can be the case for patients with DNAH11, CCNO, MCIDAS or RSPH gene mutations. |
| 3. Genetic testing and interpretation of results should follow national and international best practice guidelines [114, 115]. |
| 4. Genetic diagnosis has to be consistent with the clinical and TEM/IF/HSVA phenotype, or diagnosis reconsidered if the picture is inconsistent. |
| 5. Allelic segregation analysis within the family (especially in both parents) is important to confirm the genotype in the probands (to differentiate between homozygosity and hemizygosity, and between compound heterozygosity and a complex allele). |
| 6. Genetic testing in probands and in their relatives is helpful for genetic counselling to inform reproductive choices. |
| 7. In the future genetic testing might be important for genotype specific therapy. |
HSVA: high-speed video microscopy analysis; TEM: transmission electron microscopy; IF: immunofluorescence; nNO: nasal nitric oxide.