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Cardio-Pulmonary Panel
The Cardio-Pulmonary Panel is an analysis of 66 genes associated with an increased risk for hereditary pulmonary conditions and 196 genes associated with an increased risk for hereditary cardiovascular conditions. Consequently, this is a comprehensive analysis for increased risk for hereditary pulmonary as well as cardiac conditions.
Most Appropriate Patient Population for Testing:
Patients with a personal or family history suggestive of a hereditary cardiac or pulmonary condition. Indications for hereditary cardiac of pulmonary genetic testing include: personal or family history of cardiac symptoms (heart attack/stroke, dizziness/fainting, abnormal heart rhythm, abnormalities on echocardiogram/ECG/Holter monitor study, or a sudden cardiac death event at any age) or pulmonary
symptoms (recurrent lung infections, sinus infections, chronic unspecified lung problems, or abnormal findings on imaging or other studies). Personal history of non-specific cardiac or pulmonary conditions and findings that have not been explained by other testing. Family history of several family members affected by the same or similar cardiac or pulmonary condition.
Benefits of Cardiac Testing:
Individuals with clinical symptoms of an inherited cardiac condition may benefit from genetic testing to establish or confirm diagnosis, clarify risks, or inform management. Asymptomatic individuals within a family with significant cardiac conditions or a known pathogenic variant may also benefit by avoiding activities and medications that can trigger symptoms. In addition, genetic testing for inherited cardiovascular disease can help to establish or confirm the appropriate diagnosis, identify risks for additional related symptoms, assist in modifying lifestyle changes including diet and exercise, result in more personalized symptom management. Also, if a patient tests positive then the patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in the patient, close blood relatives (children, siblings, parents) may have as great as a 50% risk to also have this same genetic variant and be at increased risk for the associated condition.
Benefits of Pulmonary Testing:
Genetic diagnostics are often the most efficient way to determine hereditary pulmonary diseases, and they provide the necessary information to make confident individualized treatment and management decisions. Specifically, variation in the CFTR gene that causes cystic fibrosis, is targeted in this category. Screening may enable targeted, genotype specific therapies to improve CFTR function possible. In addition to cystic fibrosis, determining the exact underlying genetic cause in any hereditary pulmonary disease heavily affects genetic counseling and risk assessment. Another example of the utility of genetic testing in hereditary pulmonary diseases is shown through primary ciliary dyskinesia (PCD) cases. PCD is a genetic disorder affecting the function of motile cilia. Clinically, PCD may present with neonatal respiratory distress, chronic coughing, and recurrent sinus or ear infections. Genetic diagnosis helps in understanding a patient’s symptomology, and testing will differentiate from other pulmonary conditions, which may mimic the clinical presentation of PCD. In addition, if a patient tests positive then the patient’s family members can be tested to help define their risk. If a pathogenic variant is identified in the patient, close blood relatives (children, siblings, parents) may have as great as a 50% risk to also have this same genetic variant and be at increased risk for the associated condition.
