Comprehensive Pulmonology panel

In 2019, respiratory disease comprised 3 of the top 10 causes of death according to the World Health Organization (WHO), leading to more than 8 million deaths annually.1

Our comprehensive Pulmonology panel offers a targeted analysis of genes associated with major lung related disorders. By utilizing advanced sequencing technologies and variant analysis algorithms, we identify and interpret genetic variants within these genes. These variants provide valuable insights into the underlying molecular mechanisms of lung conditions, helping to identify at-risk individuals, provide accurate diagnoses, predict disease progression, assess prognosis, and guide personalized treatment strategies.

With the results obtained from our Pulmonology panel, informed decisions can be made regarding preventive measures, therapeutic interventions, and long-term follow-up. This leads to more precise and personalized care, empowering individuals to take proactive steps in managing their GI health.

Central hypoventilation syndrome
Ciliary (primary) dyskinesia panel
Surfactant metabolism dysfunction

Individual conditions are also offered

Clinical utility:

  • Accurate Diagnosis: Identifies specific genetic variants associated with lung conditions for precise diagnosis.
  • Risk Assessment and Prognosis: Detects genetic variants linked to increased risk, enabling early identification and personalized monitoring.
  • Family Screening and Genetic Counseling: Facilitates screening of family members for risk assessment and enables informed family planning decisions.
  • Research and Advancements: Contributes to ongoing research on the genetic basis of lung related diseases, leading to new discoveries and advancements.
  • Personalized Care: Allows tailored interventions and preventive measures based on individual genetic profiles.
  • Improved Patient Outcomes: Enhances patient care through precise diagnoses and proactive risk management.

Test specification

Technique Coverage Variant types TAT Sample requirements
NGS 150 - 180X SNP 3 - 4 weeks 2 ml EDTA Blood / 2 ug DNA



  1. Cohen, Mark et al. “World Lung Day: impact of "the big 5 lung diseases" in the context of COVID-19.” American journal of physiology. Lung cellular and molecular physiology vol. 323,3 (2022): L338-L340. doi:10.1152/ajplung.00261.2022