Bronchiectasis: Deletion/Duplication Panel
Test Code: 1159
Turnaround time: 3 weeks
Bronchiectasis is the abnormal and irreversible dilatation of the bronchi and is frequently associated with inflammation. Genetic diseases which predispose patients to recurrent or chronic lung infections, such as cystic fibrosis and primary ciliary dyskinesia, have been identified in a large proportion of those with bronchiectasis.
Notarangelo et al. (2007) Respiration. 74(3): 264-275.
This test is indicated for:
- Confirmation of a suspected hereditary respiratory disease in patients with bronchiectasis.
Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.
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.
Deletion/Duplication Analysis: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic mutations. Results of molecular analysis must be interpreted in the context of the patient’s clinical and/or biochemical phenotype.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements: In EDTA (purple top) tube: Infants (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: 60 μg
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.
- Bronchiectasis: Sequencing Panel
- Pulmonary Disease: Comprehensive Sequencing Panel Pulmonary Hypertension: Sequencing Panel
- Cystic Lung Disease: Sequencing Panel
- Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel Congenital Central Hypoventilation: Sequencing Panel