Diabetes & Obesity

Diabetes & Obesity

There are many syndromes and conditions associated with diabetes and obesity. The most common include type 2 diabetes mellitus and type 1 diabetes mellitus, estimated to impact 10.5% of the United States population. Diabetes is classified into two major forms: insulin-dependent diabetes mellitus (IDDM) and non-insulin-dependent diabetes mellitus (NIDDM).

Diabetes & Obesity

Diabetes is classified into two major forms:

Insulin-dependent diabetes mellitus (IDDM)

Non-insulin-dependent diabetes mellitus (NIDDM)

Clinical symptoms of diabetes may include excessive thirst, frequent urination, fatigue, blurred vision, weight loss, and recurrent skin infections. While diabetes often occurs with obesity, they can also be independent diagnoses. Obesity is defined as having a body mass index (BMI) of 30 or higher.

What causes diabetes and obesity?

Diabetes and obesity are multifactorial conditions, meaning many genes are likely involved in combination with environmental factors. Diabetes can occur when the body cannot produce insulin as in type 1 diabetes mellitus, or when the body cannot use insulin properly as in type 2 diabetes mellitus. Mutations associated with insulin production and function can contribute to an individual’s risk for developing diabetes or obesity. As a result, people with diabetes may have elevated blood sugar levels. Some forms of non-insulin-dependent diabetes mellitus, such as maturity-onset diabetes of the young (MODY), are caused by a single gene change that manifests symptoms prior to age 30.

Types of diabetes and obesity disorders

Diabetes and obesity disorders can be characterized as syndromic (associated with a condition) or non-syndromic (isolated). Syndromic forms of diabetes and obesity include, but are not limited to:

  • Diabetes mellitus type 1
  • Type 2 diabetes mellitus
  • Permanent neonatal diabetes mellitus
  • Bardet Biedl syndrome
  • Prader Willi Syndrome
  • Maturity onset diabetes of the young (MODY) type 1-4, 6, 8, 10
  • Alstrom Syndrome
  • Wolfram Syndrome
  • Renal Cyst and Diabetes Syndrome
  • Insulin-Dependent Diabetes mellitus secretory diarrhea syndrome (IPEX)
  • Familial Partial Lipodystrophy

Who is this test for?

This panel may be appropriate for anyone with a personal or family history of diabetic conditions. Additionally, those who have a personal or family history of the clinical symptoms mentioned above or unexplained obesity may benefit from testing. Testing may be specified to a certain condition(s) based on clinical findings.

Benefits of genetic testing

Genetic testing for diabetes and obesity can:

  • Establish or confirm the appropriate diagnosis
  • Identify risks for additional health-related symptoms
  • Assist in modifying lifestyle changes, including diet and exercise
  • Result in more personalized symptom management
  • Inform family members about their own risk factors
  • Connect patients to relevant resources & support
  • Provide options for family planning


Acceptable Sample Requirements
  • Blood, two 4-mL EDTA tubes, lavender top
  • Extracted DNA, 3 μg in EB buffer
  • Buccal swab or saliva
Turnaround Time: 3-5 weeks:
Coverage: ≥96% at 20x:
Reporting: VUS, likely pathogenic, and pathogenic variants:
Customization: Customizable Gene list, VUS opt-out: