Cardiovascular and pulmonary diseases can have a strong genetic component, impacting heart function, blood circulation, and lung health. Cardio-Pulmonary Combined Genetic Testing is a specialized diagnostic tool designed to detect inherited mutations associated with heart diseases, arrhythmias, blood vessel disorders, and pulmonary conditions. Early genetic screening can help in preventing, managing, and treating these conditions more effectively.

This test uses Next-Generation Sequencing (NGS) to analyze multiple genes linked to congenital heart defects, cardiomyopathies, arrhythmias, pulmonary hypertension, and lung disorders in a single comprehensive panel. The goal is to identify inherited risks, enable early interventions, and guide personalized treatment plans.

You may benefit from Cardio-Pulmonary Genetic Testing if you have:
✅ A family history of sudden cardiac death or unexplained heart conditions
✅ Recurrent episodes of chest pain, shortness of breath, or palpitations
✅ Diagnosed with cardiomyopathy, arrhythmia, or heart failure at an early age
✅ Unexplained episodes of hypertension or pulmonary complications
✅ A personal or family history of deep vein thrombosis (DVT) or pulmonary embolism
✅ Genetic predisposition to Marfan syndrome, Ehlers-Danlos syndrome, or connective tissue disorders

This test screens for genetic variants linked to both cardiovascular and pulmonary diseases, including:

1. Hereditary Heart Conditions

• Cardiomyopathies: Hypertrophic (HCM), Dilated (DCM), Arrhythmogenic Right Ventricular (ARVC), and Restrictive (RCM)
• Congenital Heart Defects: Atrial and Ventricular Septal Defects (ASD, VSD), Aortic Aneurysms
• Arrhythmias: Long QT Syndrome (LQTS), Brugada Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
• Coronary Artery Disease: Early-onset Atherosclerosis, Familial Hypercholesterolemia

2. Inherited Pulmonary Disorders 

• Pulmonary Hypertension: BMPR2 and other genes linked to Idiopathic Pulmonary Arterial Hypertension (IPAH)
• Cystic Fibrosis (CFTR Mutations)
• Alpha-1 Antitrypsin Deficiency (AATD) (SERPINA1 gene) – a genetic cause of emphysema and COPD
• Hereditary Hemorrhagic Telangiectasia (HHT) – associated with abnormal blood vessel formation in the lungs

3. Clotting & Vascular Disorders 

• Thrombophilia & Clotting Disorders: Factor V Leiden Mutation, Prothrombin G20210A Mutation
• Aortic and Vascular Diseases: Marfan Syndrome (FBN1 gene), Loeys-Dietz Syndrome (TGFBR1/2 genes)
• Pulmonary Embolism & Deep Vein Thrombosis (DVT) risk factors

1️⃣ Sample Collection – A blood or saliva sample is collected at a certified lab or healthcare provider’s office.
2️⃣ DNA Sequencing & Variant Analysis – Our NGS platform scans for clinically significant mutations.
3️⃣ Bioinformatics Interpretation – Advanced AI-driven analysis identifies pathogenic variants.
4️⃣ Clinical Report Review – Results are interpreted by board-certified geneticists.
5️⃣ Consultation & Next Steps – Your doctor will discuss treatment, lifestyle modifications, and preventive care.

Benefits of Cardio-Pulmonary Genetic Testing

💙 Early Risk Detection – Identifies inherited heart & lung conditions before symptoms appear
💙 Personalized Treatment – Enables targeted medications and interventions
💙 Family Risk Assessment – Helps identify relatives at risk and recommend preventive care
💙 Access to Clinical Trials – Qualifies patients for advanced treatment options
💙 Guidance for Lifestyle Adjustments – Assists in modifying diet, exercise, and medical follow-ups

Interpreting Your Results

• Pathogenic Variant Identified – A confirmed disease-causing mutation; treatment and monitoring are advised.
• Likely Pathogenic Variant – A probable genetic mutation linked to disease; further evaluation is recommended.
• Variant of Uncertain Significance (VUS) – More research or family testing may be needed for confirmation.
• No Pathogenic Variant Detected – This reduces but does not eliminate your genetic risk.

Based on your results, your doctor may:
🔹 Recommend lifestyle changes and medical therapies
🔹 Suggest preventive screenings for family members
🔹 Provide referrals to specialists for genetic counseling
🔹 Discuss potential inclusion in clinical trials for new therapies

Many insurance providers cover genetic testing for inherited cardiovascular and pulmonary diseases when deemed medically necessary. Our team can assist with pre-authorization and billing inquiries to determine your coverage.

Why Choose Our Lab for Cardio-Pulmonary Genetic Testing?

✔ Comprehensive NGS Panels – Covers all major heart and lung disease-related genes
✔ CLIA-Certified & CAP-Accredited Lab – Highest standard of genetic testing accuracy
✔ Fast Turnaround Time – Results typically available within 2-4 weeks
✔ Expert Genetic Counseling – Interpretation and recommendations for patient management
✔ Advanced AI-Driven Analysis – High-precision variant detection.