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
Cystic fibrosis CFTR 5-14
Hereditary angioedema SERPING1 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


You can view a complete listing of Ambry’s testing options organized by disease here, and by gene here