The comprehensive panel consists of 93 genes associated with a diverse and heterogeneous group of inherited pulmonary disorders. These disorders can be inherited as autosomal recessive, autosomal dominant, X-linked recessive, or X-linked dominant. However, the inheritance pattern for some of these conditions is uncertain, and many of them exhibit incomplete penetrance.
In addition to the comprehensive panel, four subpanels can also be requested when a more specific phenotype is present:
Arterial Hypertension Panel (11 genes)
Hermansky-Pudlak syndrome and Pulmonary Fibrosis Panel (25 genes)
Primary Ciliary Dyskinesia and Cystic Fibrosis Panel (42 genes)
Surfactant dysfunction & respiratory distress in premature infants Panel (8 genes)