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
Not provided.
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