Type I Diabetes

What is Type I Diabetes?

Type I diabetes is an autoimmune disorder in which the immune system attacks and destroys the insulin-producing beta cells of the pancreas. Although it typically develops during childhood or adolescence, it can also be diagnosed in adults.

Genetic testing can provide valuable insights into an individual’s predisposition to Type I diabetes, especially for those with a family history, and can help guide preventive measures.

About the Test

This genetic test searches for specific gene variants that increase the risk of developing Type I diabetes. Results are typically available about 3 weeks after the sample is received at the laboratory. The testing process is performed using an oral swab, eliminating the need for blood draws, which makes it suitable for all ages.

Genes Associated with Type I Diabetes

Type I diabetes is linked to specific variants in immune system-related genes. The main genes examined include:

• HLA-DQ2 and HLA-DQ8: These Human Leukocyte Antigen (HLA) genes play a key role in the immune system’s recognition of self-antigens. Variants in these genes significantly increase the risk of developing Type I diabetes.
• PTPN22 and INS: These genes regulate immune activity and pancreatic function.

How Can the Test Help?

• Risk Assessment:
  The test can reveal an individual’s risk of developing the disease, especially in those with a family history. A high-risk result can prompt early monitoring for initial symptoms and allow for early intervention before complications arise.
• Accurate Diagnosis:
  In cases where the type of diabetes is unclear (for example, distinguishing between Type I, Type II, or MODY), genetic testing can aid in establishing an accurate diagnosis.
• Family Screening:
  If a genetic predisposition is detected, the results can help other family members assess their own risk.

Genetic Testing for Children

Genetic testing for children with a family history of Type I diabetes is particularly important because it:

• Enables early detection of predisposition.
• Provides time for preventive monitoring of the child’s health and dietary habits.
• Offers information about whether the child is at a higher risk of developing the disease.

By identifying genetic risk factors, this test supports proactive management and tailored strategies to help mitigate the progression of Type I diabetes.