Pulmonary Panel

The Pulmonology Genetics Panel is an advanced targeted Next-Generation Sequencing (NGS) assay engineered to comprehensively profile germline and somatic mutations across genes governing pulmonary parenchymal architecture, epithelial cell clearance, surfactant homeostasis, and pulmonary vascular networks. Pulmonary diseases encompass a broad, clinically overlapping spectrum including Cystic Fibrosis, Idiopathic Pulmonary Fibrosis (IPF), Familial Pulmonary Arterial Hypertension (PAH), Primary Ciliary Dyskinesia (PCD), and hereditary lung cancer predispositions. This panel resolves diagnostic complexity in patients with atypical or refractory respiratory presentations, providing an accurate molecular diagnosis, guiding precision therapeutics, informing lung transplantation protocols, and enabling family risk management.

Key Features & Advantages

1. Definitive Molecular Diagnosis: Resolves diagnostic ambiguity across clinically overlapping interstitial lung diseases, unexplained bronchiectasis, and early-onset emphysema.
2. Guides Targeted & Modulator Therapies: Enables immediate access to genotype-specific therapies, such as CFTR modulators in Cystic Fibrosis or alpha-1 antitrypsin augmentation regimens.
3. Informs Lung Transplantation & Risk Stratification: Identifying short telomere mutations (e.g., TERT, TERC) in familial pulmonary fibrosis predicts post-transplant immunosuppressive toxicities and extra-pulmonary complications.
4. Cascade Screening & Family Planning: Maps precise inheritance patterns (autosomal dominant/recessive, X-linked) to support carrier testing, genetic counseling, and prenatal options.

Pulmonology NGS Panel vs. Conventional Respiratory Diagnostics

Key Applications

1. Cystic Fibrosis & CFTR-Related Disorders: Comprehensive screening of CFTR sequence variants and copy number variations (CNVs).
2. Familial Interstitial Lung Disease & Pulmonary Fibrosis: Profiling telomere-related genes (TERT, TERC, PARN, RTEL1) and surfactant dysfunction loci (SFTPB, SFTPC, ABCA3).
3. Pulmonary Vascular Disorders: Screening for Familial Pulmonary Arterial Hypertension (PAH - BMPR2, ACVRL1) and Hereditary Hemorrhagic Telangiectasia (HHT).
4. Primary Ciliary Dyskinesia (PCD): Molecular evaluation of ciliary structural and motor genes (DNAH5, DNAI1, CCDC39).
5. Early-Onset Emphysema: Genotyping SERPINA1 variants for Alpha-1 Antitrypsin Deficiency.
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The Nucleus Genetics Advantage: Combining ultra-deep NGS target enrichment panels aligned with ATS and ERS guidelines, advanced bioinformatic pipelines, and multidisciplinary curation by medical geneticists and pulmonologists, we transform complex respiratory genomic data into actionable clinical insights.