Pulmonary Disease: Deletion/Duplication Panel

Condition Description

A number of genes influence lung formation and function at birth. Defects in these genes cause hereditary syndromic and non-syndromic pulmonary diseases such as cystic lung disease, bronchiectasis, idiopathic pulmonary fibrosis, and cystic lung disease.

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.

Genes (52)

Your search may have returned a result for a gene alias. Click here for a full list of genes and their aliases.


This test is indicated for:
  • Confirmation of a clinical diagnosis of suspected hereditary respiratory disease.


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 (eglgc@egl-eurofins.com).
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.
  • 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

How to Order

Requisition Forms