Genetic conditions with pulmonary involvement can pose serious complications to the respiratory system. As the first diagnostic laboratory to offer commercial next generation sequencing for CFTR, the gene associated with cystic fibrosis, Ambry has a longstanding commitment to inherited pulmonary disorders. Several flexible molecular testing options are available to aid in diagnostic assessment, confirmation, and identification of at-risk family members.
Below, our testing for disorders with pulmonary involvement is listed, with links for more details.
|Condition Name||Genes||TAT (Days)|
|Alpha-1 antitrypsin deficiency||SERPINA1||14-28|
|Congenital central hypoventilation syndrome||PHOX2B||14-28|
|Pancreatitis||PRSS1, SPINK1, CFTR, CTRC||14-28|
|Primary ciliary dyskinesia (PCDNext)||ARMC4, CCDC39, CCDC40, CCDC103, CCDC114, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF5, DNAH5, DNAH11, DNAI1, DNAI2, LRRC6, NME8, (TXNDC3), OFD1, RPGR, RSPH4A, RSPH9, SPAG1||4-5 weeks|
|Surfactant dysfunction (respiratory distress syndrome)||ABCA3, SFTPB, SFTPC||5-14|
|Telomere-related pulmonary fibrosis||TERC, TERT||14-28|