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
Alpha-1 antitrypsin deficiency, A1AT deficiency Alpha-1-Antitrypsin Deficiency SERPINA1
Congenital Central Hypoventilation Syndrome Congenital Central Hypoventilation Syndrome PHOX2B
Cystic fibrosis Cystic Fibrosis Testing CFTR
Pancreatitis, Familial pancreatitis, Hereditary pancreatitis, Idiopathic sporadic pancreatitis, Recurrent idiopathic pancreatitis Pancreatitis Testing PRSS1, SPINK1, CFTR, CTRC
Primary ciliary dyskinesia (PCD), Immotile cilia syndrome (ICS), Kartagener syndrome PRIMARY CILIARY DYSKINESIA TESTING 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 Surfactant Dysfunction Testing ABCA3, SFTPB, SFTPC
Telomere-related pulmonary fibrosis, Idiopathic pulmonary fibrosis, Familial pulmonary fibrosis Telomere-Related Pulmonary Fibrosis TERC, TERT