Casandra
Casandra Test Code PG20879Version 1 (DRAFT)
Performing Lab
Congenital Central Hypoventilation Syndrome (CCHS) Panel
Clinical Use
Order TestUse
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
Not provided.
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.
Test Details
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Mutation (7 genes)
PHOX2BRETEDNRBGDNFNRTNSASH1SOX10
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided