Hirschsprung Disease (Non-syndromic) Panel
Use
The Hirschsprung Disease (Non-syndromic) Panel is intended for individuals with clinically or pathologically confirmed Hirschsprung disease, which is characterized by the absence of enteric ganglion cells in the distal rectum. This genetic test can be used to confirm a clinical diagnosis and guide further medical management of the patient. The targeted audience includes patients with notable features of Hirschsprung disease and families with a history of the condition.
Special Instructions
Ensure the collection instructions are carefully followed to prevent any sample degradation. For Exome Platform tests, samples can be collected from blood, DNA, buccal, saliva, or tissue, while Genome Platform tests require blood or DNA samples. Institutional policies should be checked for specific preparation guidelines.
Limitations
The panel may not detect all genetic variants that contribute to non-syndromic Hirschsprung disease. False negatives might occur if there is low coverage in certain genomic regions or if variants are present outside of the panel's scope. Novel variants or those not previously associated with the condition may not be interpreted correctly. Testing does not replace the need for clinical correlation or additional diagnostic testing as needed for comprehensive medical evaluation.
New York Approved
Methodology
NGS (Exome or Genome Platform)
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