Congenital Central Hypoventilation Syndrome (CCHS) Panel
Use
This test is designed for individuals with a clinical or suspected diagnosis of congenital central hypoventilation syndrome (CCHS), with symptoms onset either in the neonatal period or later. It is also suitable for individuals with neuroblastoma or Hirschsprung's disease who present symptoms consistent with CCHS.
Special Instructions
The test uses NGS with CNV analysis on either an Exome or Genome platform. Specimens can be collected from blood, DNA, buccal, saliva, or tissue, depending on the platform used.
Limitations
As with all genetic tests, this analysis may not detect all possible genetic variants associated with CCHS. Variants outside the target regions, such as regulatory regions, might not be detected. The presence of inhibitors or significant amounts of non-human DNA might also affect test performance.
New York Approved
Methodology
NGS (Targeted)
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