Cost 
$3,000.00
TAT 
4 weeks
CPT Code 
81479
Test Code 
2118
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
If sending saliva, 2 kits are required.
Any gene in the Comprehensive Congenital Hyperinsulinism Panel can also be ordered individually. Please contact us directly for cost and CPT code information.

Congenital hyperinsulinism (HI) 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 hyperinsulinemia in infants can lead to seizures, developmental delay, and permanent brain injury. Mutations in several genes have been identified in familial forms of hyperinsulinism. Mutations in the ABCC8 and KCNJ11 genes are the most common causes of congenital hyperinsulinism and account for 40 to 45% of all cases (82% of diazoxide-unresponsive patients), with other genes accounting for a much smaller percentage of cases. The genetic etiology remains unknown for 45-55% of cases. Fifty five to sixty percent of diazoxide-unresponsive HI are focal forms, whereas 40-45% are diffuse forms, in western countries.

Our Comprehensive Congenital Hyperinsulinism Panel includes sequence analysis the genes ABCC8, KCNJ11, GCK, HADH, HNF1A, HNF4A, INSR, GLUD1, SLC16A1, and UCP2 and includes deletion/duplication analysis of genes ABCC8, KCNJ11, HADH, HNF1A, HNF4A, INSR, GLUD1, SLC16A1, and UCP2.

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

This comprehensive test is most appropriate for determining the genetic etiology of hyperinsulinism in patients who do not need results urgently for management reasons. 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 use our endocrinology requisition form to order this testing.