Congenital Hyperinsulinism Panel
Use
The Congenital Hyperinsulinism Panel is intended for individuals who have a clinical or suspected diagnosis of congenital hyperinsulinism (CHI), particularly those with disease onset in the neonatal period or early infancy. It is also useful for those with diazoxide-unresponsive hypoglycemia requiring aggressive medical management or for reproductive partners of individuals carrying a known pathogenic variant in CHI-associated genes.
Special Instructions
The test can be expedited with a STAT option which accelerates the turnaround time to 7-16 days. Familiarize yourself with the platforms used - Exome and Genome, both offering specific specimen collection options.
Limitations
This panel is geared towards identifying genetic variants associated with CHI but may not detect all potential causes. It is limited to the 9 genes included in the panel and depends on the quality and quantity of the specimen used.
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