The Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism test includes Sanger sequencing of the KCNJ11, ABCC8, and GCK genes and deletion/duplication analysis (via MLPA) of the ABCC8 gene with a rapid turnaround time (results in less than 7 days). This test is indicated when results are needed rapidly, often in the newborn or infancy period, to make treatment and management decisions. Determining a genetic etiology of persistent hypoglycemia can be helpful in identifying which individuals may be responsive to diazoxide therapy, and which individuals may require surgery due to focal or diffuse disease.
Parental samples are required to complete interpretation of variants identified in the ABCC8 and KCNJ11 genes so we ask that parental samples be sent with the proband sample. Please contact the lab when sending the sample so we confirm its receipt.
Test Methodology: Full gene sequencing of all coding exons and intron/exon boundaries of ABCC8, KCNJ11, and GCK genes by direct (Sanger) sequencing of amplification products in both the forward and reverse directions. This panel also includes testing for two deep intronic splicing pathogenic variants: c.3989-9G>A and c.1333-1013A>G in ABCC8. Deletion/duplication analysis of the ABCC8 gene is performed by MLPA using a predesigned kit that contains probes for exons 1-38 of the ABCC8 gene.
Also see our comprehensive NGS-based Hyperinsulinism Panel.
