Who Should be Tested?

Genetic testing should be considered in one or more of the following settings:

  • Anyone diagnosed with diabetes at or under 12 months of age
  • A diabetes patient who is part of a family with three or more consecutive  generations affected by diabetes
  • A diabetes patient with stable, mildly elevated blood sugars, often found incidentally during a routine check-up
  • A “type 1” diabetes patient who has negative blood testing for autoantibodies, typically done at the time of diabetes diagnosis (antibodies typically tested include one or more of the following: GAD65, islet cell or ICA,  IA-2, insulin, ZnT8)
  • A “type 1” diabetes patient who generates a significant amount of insulin years beyond diagnosis (detectable blood levels of c-peptide, proinsulin, and/ or insulin)
  • A “type 2” diabetes patient who is normal weight or not significantly overweight and shows no signs of insulin resistance
  • Diabetes paired with pancreatic insufficiency (the digestive role of the pancreas is impaired with symptoms such as diarrhea and gas)
  • Individual or family history of diabetes paired with developmental kidney disease or abnormalities of the kidney (especially cysts).  The urinary system and reproductive organs may also be abnormally formed.