The Hyperinsulinism (HI) Panel is a comprehensive next generation sequencing test that analyzes over 20 genes associated with hypoglycemia. It may be ordered on its own or as a reflex test to the more rapid Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism.
The Hyperinsulinism Panel includes sequence and deletion/duplication analysis of all genes on this panel. This panel also includes testing for three deep intronic splicing pathogenic variants: c.3989-9G>A and c.1333-1013A>G in ABCC8, and c.636+471G>T in HADH. Parental samples may be requested during analysis for interpretation of variants in the ABCC8 and KCNJ11 genes.
TAT
4 weeks
CPT Code
81443
Test Code
2118
Test Methods
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Additional Information
If sending saliva, 2 kits are required.
Any gene in the Hyperinsulinism Panel can also be ordered individually. Please contact us directly for cost and CPT code information.