List of diseases covered by
Hyperinsulinism NGS panel

Gene Condition
ABCC8 Diabetes mellitus, noninsulin-dependent;
Diabetes mellitus, permanent neonatal; Diabetes mellitus, transient neonatal 2;
Hyperinsulinemic hypoglycemia, familial, 1;
Hypoglycemia of infancy, leucine-sensitive
GCK Diabetes mellitus, noninsulin-dependent, late onset;
Diabetes mellitus, permanent neonatal;
Hyperinsulinemic hypoglycemia, familial, 3; MODY, type II
GLUD1 Hyperinsulinism-hyperammonemia syndrome
HADH Hyperinsulinemic hypoglycemia, familial, 4;
3-hydroxyacyl-CoA dehydrogenase deficiency
HK1 Hemolytic anemia due to hexokinase deficiency;
Neurodevelopmental disorder with visual defects and brain anomalies;
Neuropathy, hereditary motor and sensory, Russe type; Retinitis pigmentosa 79
HNF1A Diabetes mellitus, insulin-dependent, 20;
MODY, type III; Renal cell carcinoma; Diabetes mellitus, insulin-dependent;
Diabetes mellitus, noninsulin-dependent, 2
HNF4A MODY, type I;
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young;
Diabetes mellitus, noninsulin-dependent
INSR Diabetes mellitus, insulin-resistant,
with acanthosis nigricans;
Hyperinsulinemic hypoglycemia, familial, 5;
Leprechaunism; Rabson-Mendenhall syndrome
KCNJ11 Diabetes mellitus, transient neonatal, 3;
Diabetes, permanent neonatal, with or without neurologic features;
Hyperinsulinemic hypoglycemia, familial, 2;
Maturity-onset diabetes of the young, type 13;
Diabetes mellitus, type 2, susceptibility to
PMM2 Congenital disorder of glycosylation, type Ia
SLC16A1 Erythrocyte lactate transporter defect;
Hyperinsulinemic hypoglycemia, familial, 7;
Monocarboxylate transporter 1 deficiency
UCP2 Obesity, susceptibility to, BMIQ4