Pulmonary
for primary ciliary dyskinesia with extended gene panels
System Profile
Yield Comparison
Clinical Dimensions
- Recurrent pneumonias
- Chronic wet cough
- Unexplained respiratory distress
- Neonatal respiratory failure
- Cystic fibrosis
- Primary ciliary dyskinesia
- Surfactant protein deficiencies
- Congenital diaphragmatic hernia with syndromic features
- Digital clubbing
- Nasal polyps
- Chest wall deformities
- Retractions
- Chronic wet cough on exam
- Crackles or wheezes not explained by typical asthma
- Chronic cough
- Daily wet cough
- Recurrent pneumonia
- Wheezing poorly responsive to therapy
- Nighttime breathing issues
- Snoring or apnea
- Elevated sweat chloride
- Borderline sweat test with CFTR mutation
- Low nasal nitric oxide
- Eosinophilia in some genetic lung diseases
- Arterial blood gas abnormalities
- Chest CT showing bronchiectasis
- Mosaic perfusion
- Situs inversus
- Interstitial lung disease
- Congenital airway malformations
- Ground-glass opacities in infants
- Ciliary biopsy showing immotile or dyskinetic cilia
- Low nasal nitric oxide on PCD screening
- Sweat chloride confirmatory for CF
- PFT with unexplained obstruction/restriction
- Chronic inhaled steroids
- Long-term antibiotics for bronchiectasis
- CFTR modulators
- Home oxygen
- Nebulized therapies
- Severe bronchospasm or anaphylactoid response not fully explained by atopy
- Unusual sensitivity to inhaled agents
- Lobectomy for congenital airway malformations
- Tracheostomy
- Diaphragmatic hernia repairs
- Lung biopsy for interstitial disease
- Chest PT
- Airway clearance therapies (vest, manual percussion)
- CF clinic respiratory protocols
- Home oxygen
- CPAP/BiPAP
- Airway clearance vests
- Nebulizer equipment
- Tracheostomy hardware
- Pulmonology/CF clinic/PCD center
- Chronic respiratory team
- Pulmonologist recommending CFTR or PCD testing
- Cystic fibrosis
- Chronic lung disease in childhood
- Bronchiectasis
- Situs inversus
- Recurrent pneumonias in multiple relatives
- No secondhand smoke or environmental pollutants explaining chronic cough and bronchitis
- Similar pulmonary history in siblings
- Symptoms from infancy
- Respiratory distress requiring oxygen or ventilation without clear infection
- PPHN
- Pneumothorax
- Recurrent early pneumonias
Red Flag Combinations
Clinical patterns that should prompt consideration of genetic testing
Chronic wet cough + situs inversus
Recurrent pneumonia + pancreatic insufficiency
Bronchiectasis + infertility
Lung disease + liver disease
Screening Decision Pathway
When to consider genetic testing for pulmonary presentations
graph TD
START["Patient Presents with\nPulmonary Concerns"] --> SCREEN{"Screen for\nRed Flags"}
SCREEN --> RF1["Failed respiratory or oxygenation newborn screens"]
SCREEN --> RF2["Low nasal nitric oxide on PCD screening"]
SCREEN --> RF3["Spirometry abnormalities in children without asthm..."]
RF1 --> EVAL{"Multiple\nFlags Present?"}
RF2 --> EVAL{"Multiple\nFlags Present?"}
RF3 --> EVAL{"Multiple\nFlags Present?"}
EVAL -->|Yes| TEST["Order Genetic Testing\n(ES/GS)"]
EVAL -->|No| MONITOR["Continue Monitoring\nRe-evaluate if New Findings"]
TEST --> DX["Molecular Diagnosis\n47-80% yield"]
style TEST fill:#dcfce7,stroke:#16a34a,color:#14532d
style DX fill:#bbf7d0,stroke:#16a34a,color:#14532d
style MONITOR fill:#fef3c7,stroke:#d97706,color:#92400e
Screening Red Flags
Findings on routine screening that may indicate genetic etiology
- Failed respiratory or oxygenation newborn screens
- Low nasal nitric oxide on PCD screening
- Spirometry abnormalities in children without asthma
Exome / Genome Sequencing Indications
Clinical scenarios supporting ES/GS as a diagnostic approach
- Chronic lung disease (CF/PCD/surfactant defects) with nondiagnostic standard testing
- Bronchiectasis with infertility
- Syndromic pulmonary disease
Key Evidence
Published studies supporting genetic testing for pulmonary conditions
| Study | Year | Type | Sample | Yield | Key Finding |
|---|---|---|---|---|---|
| Diagnosis of Primary Ciliary Dyskinesia. An Official America... | 2018 | Guideline | None | 80% | Extended genetic panels (>12 genes) for PCD achieved 80% sensitivity; 54.8-93.9%... |
| Robust diagnostic genetic testing using solution capture enr... | 2014 | Cohort | 20 | 42% | 42% diagnostic yield for PCD using targeted exome capture and novel bioinformati... |
| Whole-Exome Sequencing and Targeted Copy Number Analysis in ... | 2015 | Cohort | 45 | 76% | 76% overall diagnostic yield combining WES with targeted CNV analysis in 45 PCD ... |
| Enhanced diagnostic yield in Meckel-Gruber and Joubert syndr... | 2016 | Cohort | 26 | 46% | 46% diagnostic yield in ciliopathy (Joubert/Meckel-Gruber) families with exome s... |
| Clinical and genetic spectrum in 33 Egyptian families with s... | 2020 | Cohort | 33 | 70% | 70% diagnostic yield with targeted NGS panel in 33 Egyptian PCD families, identi... |
| PulmZoom: Yield for Targeted Gene Panels in Genetically-Medi... | 2025 | Cohort | None | 4.1% | 4.1% definitive diagnostic yield across 416 subjects with ILD, mucociliary clear... |
| Noncoding DNA Variants Increase the Genetic Diagnostic Yield... | 2025 | Cohort | 496 | 46.8% | 46.8% baseline yield in 496 PCD families; noncoding variant analysis added 38.1%... |
Updated: 2026-02-24
Curated by: human
Status: human reviewed