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Genomic analysis and evidence report
Genetic testing was performed to investigate whether a known genetic cause could explain this child’s respiratory condition.
The testing focused on a specific group of genes that are known, based on current medical knowledge, to be associated with conditions such as chronic cough, recurrent chest infections, or bronchiectasis.
A genetic result is only meaningful if it is clear what was tested, what was found, and whether sufficient evidence was available to independently interpret the result responsibly.
What was tested and what was found
Reports what genetic testing was performed, which genes were examined, and what result was identified.
Genetic analysis report
Provided by: Diagnostic laboratory
Scope: Clinical genetic analysis
Genetic result summary
★ Main findingPanel analysed: Non-Cystic Fibrosis bronchiectasis
Number of genes screened: 18
No qualifying pathogenic or likely pathogenic variant was identified in any gene within the tested panel under the applied analysis protocol.
- Positive A qualifying variant in a known disease associated gene is identified.
- Negative No qualifying pathogenic or likely pathogenic variant is identified.
What this section explains
This section explains what genetic testing was performed and what the result was.
It describes the group of genes that were analysed, why they were chosen, and whether any clinically relevant genetic variant was identified.
Examples of genes included in this panel Read more
Genetic testing for bronchiectasis uses a panel of genes rather than a single gene. Each gene is included because changes in that gene are known to affect airway health in different ways.
The examples below illustrate why some genes were included. They are not the full list.
| Gene | Why it was included | What a finding could explain |
|---|---|---|
| CFTR | Included to assess cystic fibrosis related mechanisms that can cause bronchiectasis even when classic cystic fibrosis is not present. | Thick airway mucus and chronic infection due to impaired salt and water transport. |
| DAW1 | Included because it affects the assembly of motile cilia in the airways. | Reduced mucus clearance, leading to recurrent chest infections. |
| DNAH5 | Included as a common cause of ciliary dysfunction affecting airway movement. | Poor ciliary motion causing chronic wet cough and bronchiectasis. |
Together, the full panel covers genes involved in mucus regulation, immune defence, and ciliary movement.
Technical details Read more
Genetic analysis was performed using a predefined, versioned gene panel. This ensures that the same set of genes and inclusion criteria can be applied consistently across cases.
| Reference genome | GRCh38 |
|---|---|
| Gene panel | Non-Cystic Fibrosis bronchiectasis (panel 296) |
| Genes screened | 18 |
| Analysis pipeline | QV Mendelian rare disease |
| Variant interpretation | Qualifying Variant framework |
| Analysis software | GATK, Exomiser, QV |
| Panel governance | Versioned, publicly auditable |