Clinical Significance: |
Detects sequence variants (including point sequence variants, deletions, insertions, and rearrangements) in the coding sequences of the ABCC8, KCNJ11, GCK, and GLUD1 genes in patients with congenital Hyperinsulinemic hypoglycemia (CHI). Patients exhibit severe, persistent hypoglycemia in newborns or infants; family history of CHI. |