CoGenesis® Respiratory
NGS virtual panel covering 121 genes across 4 disease panels (Respiratory disorders)
CoGenesis® Respiratory is a next-generation sequencing virtual panel of 121 genes targeting four disease groups: cystic fibrosis, primary ciliary dyskinesia, surfactant dysfunction and hereditary interstitial lung disease, and alpha-1 antitrypsin deficiency together with related hereditary pulmonary fibrosis and hereditary haemorrhagic telangiectasia. It clarifies the molecular cause in patients whose clinical features overlap with multiple hereditary respiratory syndromes, supports CFTR-modulator eligibility assessment, and informs transplantation counselling in progressive fibrotic disease.
- Confirming genetic diagnosis of cystic fibrosis, primary ciliary dyskinesia, or surfactant dysfunction in symptomatic patients.
- Identifying causal variants in unexplained childhood-onset lung disease, bronchiectasis, or hereditary pulmonary fibrosis.
- Determining eligibility for CFTR-modulator therapy and other mutation-specific treatments.
- Supporting cascade testing and reproductive risk counselling.
- Diagnosing acquired lung disease caused by infection, smoking, occupational exposure, or environmental injury.
- Detecting CFTR-related functional defects that require physiological confirmation such as sweat chloride or nasal potential difference testing.
- Replacing imaging, pulmonary function testing, or ciliary biopsy.
- Serving as a stand-alone diagnostic tool without clinical correlation.
4 sub-panels included:
| Step / Test | Accuracy | Notes |
|---|---|---|
| Variant calling – SNP | >99.9% | |
| Variant calling – Indel | >99% |
4mL Peripheral blood (EDTA), 2mL saliva, or buccal swab
Preferred sample type:
- 4mL Blood (EDTA tube),
- Codex-provided buccal swabs (4 swabs)
- Codex-provided saliva collection kit (2mL)
Saliva or buccal swab sample collection: Follow the enclosed instructions; do not eat, drink, or smoke for 30 minutes before collection.
- Insufficient DNA quantity or poor DNA quality
- Improperly labeled or contaminated samples
- Degraded specimens due to incorrect storage or transport
- Non-human samples or inappropriate specimen types
Samples must be collected and submitted by a licensed healthcare professional.
- Keep Blood samples at 4–8°C after collection; avoid freezing, deliver within 48 hours of collection.
- Saliva or buccal swabs are stability in room temperature for up to 7 days. Address: Unit 220, 2/F, Building 16W, HKSTP, Pak Shek Kok, NT, Hong Kong. Tel: +852 3008 2560
- Results may identify pathogenic, likely pathogenic, or variants of uncertain significance (VUS).
- Positive findings can inform risk‑reducing strategies and treatment options.
- Genetic counseling is recommended to help families understand implications.
Hereditary lung disease encompasses cystic fibrosis (biallelic CFTR variants in approximately 1 in 2,500–3,500 live births in populations of European ancestry), primary ciliary dyskinesia (an autosomal recessive ciliopathy with 40+ associated genes), surfactant dysfunction and childhood interstitial lung disease (chILD), alpha-1 antitrypsin deficiency, and telomere biology disorders linked to familial pulmonary fibrosis. Because these conditions share features of chronic cough, bronchiectasis, or diffuse parenchymal disease, precise molecular diagnosis is often required to direct therapy. Actionable findings include variant-specific eligibility for CFTR modulators, anticipatory surveillance for fibrotic progression, and identification of relatives needing screening. Panel-based NGS is now first-tier testing in specialist centres, complementing ciliary structural and functional assays.
Hong Kong-based molecular diagnostics laboratory specialising in clinical genomics, precision oncology, and rare disease diagnosis. Accredited to ISO 27001 and GenQA standards.
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