NEONATAL RESPIRATORY DISTRESS: CLINICAL EXOME PANEL (Sec. & CNVs) – 99 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Neonatal Respiratory Distress Panel is designed for the comprehensive genetic study of hereditary causes of respiratory distress in newborns, both in forms related to lung maturation and surfactant, and in those due to structural alterations of the lung, ciliary motility defects, or metabolic and vascular diseases. It includes genes associated with surfactant deficiency (ABCA3, SFTPB, SFTPC, NKX2-1, FOXF1), primary ciliary dyskinesia (CCDC39, CCDC40, DNAAF1-5, DNAH11, DNAI1, DNAI2, DNAL1, RSPH1, RSPH4A, RSPH9), syndromic ciliopathies (BBS1, CEP290, MKKS, MKS1, OFD1, SDCCAG8), cystic fibrosis and respiratory channelopathies (CFTR, SCNN1A, SCNN1B, SCNN1G), as well as genes involved in pulmonary, vascular, and metabolic development (FOXF1, ITGA3, GATA2, SLC34A2, SARS2, TERT, TINF2). Its clinical application allows for early diagnosis in severe or recurrent cases, improves therapeutic stratification, identifies treatable forms, and provides genetic counseling to families. Key genes analyzed: ABCA3, SFTPB, SFTPC, CFTR, DNAH11, RSPH1, NKX2-1, FOXF1, TERT, and others. For a complete list of analyzed genes, please contact Genotica.
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