Genetic analysis of congenital hyperinsulinemia (CHI) is recommended in conditions where non-ketotic hypoglycemia is diagnosed after the birth or in early years of life. Major genes causing CHI are ATP-dependent potassium channel genes, the sulfonylurea receptor 1 (ABCC8 (SUR1)) and Kir6.2 (Inward Rectifier K-Channel, KCNJ11) genes. We screen the entire coding regions of these genes as well as the coding region of the glucokinase (GCK) gene. DNA screening is also recommended if a mutation responsible for CHI has been diagnosed in close relatives of the patient.
The analysis is performed from a whole blood sample (EDTA). Instructions for storage and sending the sample as well as prices for DNA screening are given in the request form. The report and interpretation of the results are mailed to the address given in the order approximately four weeks after the arrival of the blood sample.