The Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism test includes Sanger sequencing of the KCNJ11ABCC8, 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 ABCC8KCNJ11, 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.

Institutional Price 
$3,000.00
TAT 
7 days
CPT Code 
81403
81406
81407
81479
Test Code 
2116
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Genes