- Congenital hyperinsulinism is a condition that causes individuals to have an abnormally high level of insulin. Insulin is a hormone that helps control blood sugar levels. Individuals affected generally have episodes of low blood sugar that lead to lack of energy, irritability, and difficulty eating. Repeated episodes of low blood sugar can increase the risk of serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma. The disorder affects approximately 1 in 50,000 newborns with prevalence varying depending on certain populations. The disorder is caused by mutations in genes that regulate the release of insulin. Normally insulin is secreted in response to the amount of glucose levels in the blood stream but individuals with the disorder secrete insulin regardless of the amount of glucose present (1). Approximately 45% of affected individuals have pathogenic mutations in either the genes ABCC8 or KCNJ11 (2). Genetic testing is crucial in identifying the cause behind the disorder and assessing risks for family members.
- Genes (12): ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INS, INSR, KCNJ11, PDX1, SLC16A1, and UCP2
Test Code: 4015
• Molecular confirmation of a clinical diagnosis in symptomatic patients.
• Assessment for at-risk family members
Test Info Sheet: Hyperinsulinism Panel
Requisition: Contact ApolloGen Diagnostic Laboratory
- Turn-Around Time: 4 Weeks
Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
Other Specimens: See details here
- CPT Codes: 81403×1, 81404×2, 81405×1, 81406×3, 81407×1, 81479×4
Pricing: Please contact us at (949) 916-8886 or firstname.lastname@example.org
- Methodology: Next-Generation Sequencing (NGS)
Diabetes and Obesity Panel
MODY Neonatal Diabetes Panel