Tests by Specialty- Pulmonology

Ambry Genetics has cataloged all of our tests and organized them below by specialty. The comprehensive listing of tests by specialty is organized in alphabetical order.

Disease Test Genes
Surfactant Dysfunction ABCA3-Related Surfactant Dysfunction ABCA3
Alpha-1-Antitrypsin Deficiency Alpha-1-Antitrypsin Deficiency SERPINA1
Congenital Central Hypoventilation Syndrome Congenital Central Hypoventilation Syndrome PHOX2B
Cystic Fibrosis Cystic Fibrosis Testing CFTR
Pulmonary Fibrosis, Idiopathic Idiopathic Pulmonary Fibrosis (IPF Telomerase) TERC, TERT
Primary Ciliary Dyskinesia (PCD), Immotile Cilia Syndrome (ICS), Kartagener's Syndrome Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR) CFTR, DNAAF1, DNAAF2, DNAH5, DNAH11, DNAI1, DNAI2, OFD1, RPGR, RSPH4A, RSPH9, TXNDC3
Surfactant Dysfunction, Interstitial Lung Disease, Pediatric and Familial, Neonatal Respiratory Failure, Postnatal Respiratory Distress (chronic Surfactant Panel (SFTPB, SFTPC, ABCA3) ABCA3, SFTPB, SFTPC