Congenital Central Hypoventilation Syndrome: Deletion/Duplication Panel

Condition Description

Congenital central hypoventilation syndrome (CCHS) is a disorder of respiratory and autonomic regulation typically presenting in newborns. It is characterized by hypoventilation with monotonous respiratory rates and shallow breathing. Some individuals present with altered development of neural crest-derived structures and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma and ganglioneuroblastoma). A milder later-onset presentation of the syndrome can be seen in toddlers, children and adults.

  • Genereviews
  • OMIM

Genes (7)

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This test is indicated for:
  • Confirmation of a clinical diagnosis of congenital central hypoventilation syndrome.


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
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.
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.
  • Congenital Central Hypoventilation Syndrome: Sequencing Panel
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  • Bronchiectasis: Sequencing Panel
  • Cystic Lung Disease: Sequencing Panel
  • Pulmonary Fibrosis and Hermansky-Pudlak Syndrome: Sequencing Panel
  • Pulmonary Hypertension: Sequencing Panel

How to Order

Requisition Forms