Comprehensive Pulmonology Panel

Respiratory diseases remain a significant global health burden, with millions of lives lost each year due to various lung-related conditions. In 2019, the World Health Organization (WHO) reported that respiratory diseases were responsible for three of the top ten causes of death, leading to more than 8 million deaths annually. These staggering statistics underscore the importance of early detection, accurate diagnosis, and personalized treatment strategies for managing pulmonary conditions.

Our Comprehensive Pulmonology Panel is designed to address this critical need by offering a targeted analysis of genes associated with major lung-related disorders. By utilizing advanced sequencing technologies and sophisticated variant analysis algorithms, we provide a detailed understanding of the genetic factors contributing to these conditions. This comprehensive approach enables healthcare providers to make informed decisions regarding patient care, ultimately improving outcomes and empowering individuals to take proactive steps in managing their respiratory health. 

Key Conditions Covered

The Comprehensive Pulmonology Panel is a genetic testing tool that focuses on identifying and analyzing genetic variants linked to a wide range of pulmonary disorders. These conditions can range from common respiratory issues to rare genetic syndromes that significantly impact lung function. The panel includes a thorough examination of genes associated with the following conditions:

1. Central Hypoventilation Syndrome: A rare disorder characterized by inadequate breathing during sleep, often due to mutations in the PHOX2B gene. Early detection through genetic testing can facilitate timely intervention and management.

2. Ciliary (Primary) Dyskinesia Panel: This condition involves defects in the cilia, the hair-like structures responsible for moving mucus out of the lungs. Genetic testing can identify mutations in genes such as DNAH5 and DNAI1, which are commonly implicated in this disorder.

3. Surfactant Metabolism Dysfunction: This condition affects the production and function of surfactant, a substance critical for keeping the lungs‘ air sacs open. Mutations in genes like SFTPB, SFTPC, and ABCA3 are typically involved.

     4. Birt-Hogg-Dube syndrome: A rare genetic disorder characterized by skin tumors (fibrofolliculomas), kidney cancer, and lung cysts,       leading to an increased risk of pneumothorax.

     5. Pneumothorax: The presence of air in the pleural space causing lung collapse, which can occur spontaneously or due to injury.

     6. LAMS: LAMS could refer to a disease classification or regional acronym not commonly associated with standard lung disease terminology.

     7. Idiopathic pulmonary fibrosis: A progressive lung disease characterized by scarring (fibrosis) of the lung tissue without a known cause, leading to a gradual decline in lung function.

     8. Interstitial lung disease: A group of disorders involving inflammation and scarring of the lung interstitium, which can affect lung function and cause breathing difficulties.

These are just a few examples of the conditions covered by the Comprehensive Pulmonology Panel. The panel is not limited to these conditions, as it offers analysis for a wide range of lung-related disorders. By identifying specific genetic variants, the panel provides valuable insights into the underlying molecular mechanisms of these conditions, helping clinicians make accurate diagnoses, predict disease progression, and develop personalized treatment plans.

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.

When to Consider the Comprehensive Pulmonology Panel

The Comprehensive Pulmonology Panel should be considered in various clinical scenarios, including:

• Unexplained Respiratory Symptoms: Patients with persistent or unexplained respiratory symptoms, such as chronic cough, wheezing, or difficulty breathing, may benefit from genetic testing to identify underlying genetic factors.

• Family History of Pulmonary Disorders: Individuals with a family history of respiratory diseases, especially those known to be genetically inherited, should consider genetic testing to assess their risk and take preventive measures.

• Early Onset of Respiratory Conditions: Genetic testing is particularly valuable for patients who develop respiratory conditions at a young age, as these cases are more likely to have a genetic component.

• Recurrent Respiratory Infections: Patients experiencing recurrent respiratory infections without an identifiable cause may have an underlying genetic condition affecting their immune response or lung function.

• Prenatal Screening: For expectant parents with a family history of pulmonary disorders, the panel can provide valuable information for prenatal care and planning.

MapmyGenome Offerings

At MapmyGenome, we offer a comprehensive and personalized approach to genetic testing for pulmonary disorders. Our Comprehensive Pulmonology Panel includes:

1. Advanced Sequencing Technologies: We use state-of-the-art sequencing platforms to ensure accurate and reliable results, providing a deep analysis of the genes associated with respiratory diseases.

2. Expert Interpretation: Our team of geneticists and bioinformaticians meticulously analyzes the data, identifying clinically relevant variants and interpreting their significance in the context of the patient‘s health.

3. Detailed Reports: Patients and healthcare providers receive detailed reports that include information on identified genetic variants, their potential impact, and recommended next steps for management and treatment.

4. Genetic Counseling: We offer genetic counseling services to help patients and their families understand the results, explore their implications, and make informed decisions about their healthcare.

5. Ongoing Support: Our commitment to patient care extends beyond the testing process. We provide ongoing support to healthcare providers and patients, offering updates on new research, treatment options, and advancements in the field of pulmonology.

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