This panel of 124 genes is intended for patients with a diagnosis or clinical suspicion of inherited pulmonary disorders and is performed by Next Generation Sequencing (NGS). This molecular test is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.
In addition to the comprehensive panel, four subpanels can also be requested when a more specific phenotype is present:
Central Hyponventilation Syndrome Sequencing Panel (3 genes)
Dyskeratosis Congenita Sequencing Panel (14 genes)
Hermansky-Pudlak syndrome and Pulmonary Fibrosis Panel (40 genes)
Primary Ciliary Dyskinesia and Cystic Fibrosis Panel (42 genes)
Pulmonary Arterial Hypertension Panel (22 genes)
Surfactant dysfunction & respiratory distress in premature infants Panel (11 genes)