Use

The familial hyperinsulinism (FH) test offers molecular detection of two common pathogenic variants in the ABCC8 gene, IVS32‑9G>A (c.3989‑9G>A) and F1387del (c.4160_4162delTCT), which account for approximately 90% of Ashkenazi‑Jewish FH pathogenic variants. FH is an autosomal recessive disorder characterized by an inability to suppress insulin production that results in hypoglycemia (low blood sugar).