Pathogenic changes in genes associated with these diseases cause severe, and sometimes lethal, lung malformations including those in the sonic hedgehog, fibroblast growth factor and thyroid transcription factor-1 pathways.
- Liss and Armstrong. (2010), Chest. 137:748-50.
- Confirmation of a clinical diagnosis of suspected hereditary respiratory disease.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements:In microtainer: 10 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Pulmonary Disease: Sequencing Panel
- Bronchiectasis: Sequencing Panel
- Cystic Lung Disease: Sequencing Panel
- Pulmonary Fibrosis - Hermansky-Pudlak Syndrome: Sequencing Panel
- Pulmonary Hypertension: Sequencing Panel
- Congenital Central Hypoventilation: Sequencing Panel