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 (digestive role of the pancreas is impaired with symptoms like 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.

Reprinted from Monogenicdiabetes.org (Kovler Diabetes Center, University of Chicago)

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