Bronchiectasis: Deletion/Duplication Panel

Condition Description

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.

Genes (16)

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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.


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.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (
Submit only 1 of the following specimen types
Whole Blood (EDTA)

EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.
DNA, Isolated

Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in 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

How to Order

Requisition Forms