{"product_id":"enfermedades-pulmonares-neumologicas-global-panel-por-exoma-clinico-sec-cnvs-264-genes","title":"GLOBAL PULMONARY\/NEUTERIC DISEASES: CLINICAL EXOME PANEL (Sec. \u0026amp; CNVs) – 264 genes","description":"\u003cp\u003eThe global panel on Pulmonary and Pulmonary Diseases offers a comprehensive genetic approach to the study of hereditary respiratory pathologies, both in the neonatal and pediatric context as well as in adults, which present with respiratory distress, pulmonary fibrosis, bronchiectasis, ciliary dyskinesia, recurrent pneumothorax or pulmonary hypertension. This study covers a broad spectrum of pathophysiological mechanisms including surfactant disorders (SFTPA1, SFTPA2, SFTPB, SFTPC, ABCA3, SLC34A2), ciliary motility and mucociliary clearance defects (CCDC39, CCDC40, DNAH5, DNAH11, DNAI1, DNAI2, DNAAF1-5, RSPH1, RSPH4A, RSPH9, ZMYND10), epithelial channelopathies and cystic fibrosis (CFTR, SCNN1A, SCNN1B, SCNN1G), pulmonary and vascular developmental disorders (FOXF1, NKX2-1, TBX4, ACVRL1, BMPR2, ENG, GDF2, SMAD9), interstitial and fibrosing diseases (TERT, TINF2, RTEL1, DKC1, EIF2AK4, FLCN, MUC5B), and multisystem syndromes with respiratory involvement (NF1, TSC1, TSC2, DICER1, STAT3, SERPINA1, HPS1, HPS3, HPS4). This panel allows for the identification of pathogenic variants responsible for multiple clinical entities such as primary ciliary dyskinesia, idiopathic pulmonary fibrosis, pulmonary veno-occlusive disease, surfactant deficiency, cystic lung diseases, and respiratory malformation syndromes, contributing to accurate molecular diagnosis, individualized prognosis, and therapeutic and family guidance. Key genes analyzed include: CFTR, ABCA3, SFTPB, SFTPC, DNAH5, DNAI1, BMPR2, TERT, FLCN, FOXF1, NKX2-1, and others. A complete list of analyzed genes can be obtained by contacting Genotica.\u003c\/p\u003e","brand":"LabGenetics","offers":[{"title":"Default Title","offer_id":52131427221770,"sku":null,"price":850.0,"currency_code":"EUR","in_stock":true}],"url":"https:\/\/www.genotica.com\/en\/products\/enfermedades-pulmonares-neumologicas-global-panel-por-exoma-clinico-sec-cnvs-264-genes","provider":"Genotica","version":"1.0","type":"link"}