Cost 
$3,000.00
TAT 
7 days
CPT Code 
81479
Test Code 
2116
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA

Congenital hyperinsulinism is the most frequent cause of severe persistent hypoglycemia in early infancy. CHI is characterized by unregulated insulin secretion from pancreatic β-cells. The incidence is estimated at 1/50,000 live births, but it may be as high as 1/2,500 in countries where consanguinity is common. Untreated hypoglycemia due to hyperinsulinism in infants can lead to seizures, developmental delay, and permanent brain injury. Hyperinsulinism can be caused by diffuse disease affecting the whole pancreas, or by a focal lesion.

Determining a genetic etiology can be helpful in identifying which patients may be responsive to diazoxide therapy, and which patients may require surgery due to focal or diffuse disease. In some cases, parental testing may be necessary to differentiate between diffuse and focal disease in a patient. Our Tier 1: Diazoxide Unresponsive Hyperinsulinism panel provides rapid results in 7 days for genes associated with diaoxide unresponsive therapy: ABCC8, GCK and KCNJ11 sequencing, and ABCC8 deletion/duplication. These results can help determine disease extent and severity.

This panel is most suited to patients who need rapid results to assist with management decisions. Whenever possible, we recommend sending blood samples on both parents in addition to the patient. There is no charge for parental testing, if performed.

Please note: Any gene in the Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism Panel can also be ordered individually. Please contact us directly for cost and CPT code information.

Please use our endocrinology requisition form to order this testing.