Congenital Central Hypoventilation Syndrome (CCHS) via the PHOX2B Gene
Use
This test is designed for individuals who have clinical or suspected Congenital Central Hypoventilation Syndrome (CCHS). Symptoms may manifest in the first 30 days of life, known as neonatal onset, or later. Individuals with neuroblastoma or Hirschsprung's disease who show symptoms of CCHS may also benefit from this test. The test aims to accurately detect variations in the PHOX2B gene that are known to cause CCHS, allowing for a clearer diagnosis and potential treatment pathways.
Special Instructions
This test utilizes a comprehensive Next Generation Sequencing (NGS) with Copy Number Variation (CNV) detection, available on either an Exome or Genome Platform, to thoroughly analyze potential genetic anomalies associated with CCHS. For faster processing, a STAT option is available, which provides results in 7-16 days. When ordering, please ensure all required documentation is completed and specimens are appropriately labeled and shipped following provided instructions.
Limitations
The test may not detect all genetic anomalies associated with PHOX2B, particularly deep intronic or regulatory region variants not covered by exome or genome platforms. Structural rearrangements and low-level mosaicism may also evade detection. Environmental or other genetic factors may contribute to CCHS risk and are not assessed with this test, possibly resulting in false negatives. Accurate results depend on the quality and integrity of the DNA sample submitted.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided