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 |
| Cystic Fibrosis | Cystic Fibrosis Transmembrane Regulatory (CFTR) Gene (CF 102) | |
| Pulmonary Fibrosis, Idiopathic | Idiopathic Pulmonary Fibrosis (IPF Telomerase) | TERC, TERT |
| Pulmonary Arterial Hypertension | PAH AMPLIFIED™ (Pulmonary Arterial Hypertension) | BMPR2 |
| 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 |