Permanent Neonatal Diabetes (PND) is characterized with a severe defect as regards production of insulin, as a result of a mutation of KCNJ11 gene, which encodes an ATP-sensitive sub-unit Kir6.2 of the potassium drain. The test covers an analysis of 8 mutations of KCNJ11 gene conditioning neonatal diabetes, which facilitates very early detection of a disease and start of an appropriate treatment with a view to improving metabolic alignment and life quality. In case of detecting a predisposition mutation in KCNJ11 gene, one should continue treatment with the use of sulphonyl urea derivatives instead of insulin.
Diabetes connected with mutations in KCNJ11 gene is a disease inherited in an autosomal dominant way. Due to the fact that a child affected with such a defect is bound to develop a diabetes in the first weeks of their life, and the disease is characterized with a rather severe clinical condition, at least in the initial stage, it is worth to make a genetic test with a view to getting an adequate diagnosis and implementing appropriate treatment.
Test material: full blood (EDTA), cheek swab
Transfer method: blood: 4-10°C (a set for blood tests); cheek swab: room temperature (a set for cheek swabs)
Testing method: Direct sequencing of respective gene’s fragments
Delivery date: up to 10 business days