Genetic Testing for Rare Disorders of Obesity

Obesity is a serious health issue that is associated with the leading causes of death across the country, such as heart disease, diabetes, stroke and cancer.

Obesity has typically been associated with a person eating more calories than they burn on a regular basis. In recent years it has become evident that genes also play a role in the development of obesity. Rare genetic variants have been shown to be a key pathway responsible for regulating hunger, which could result in rare genetic disorders of obesity. Examples of these disorders include:

  • POMC deficiency,
  • LEPR deficiency,
  • Bardet-Biedl syndrome
  • Alström syndrome

Many people with these rare disorders of obesity are often affected with early-onset, severe obesity. Many suffer from insatiable hunger (hyperplagia). Genetic testing can help us diagnose a patient with a rare genetic disorder. By diagnosing early, we can help manage your health more effectively and help you make more informed decisions about your health care.

For information about Rhythm Pharmaceuticals Uncovering Rare Obesity (URO) genetic testing program, please visit https://www.leadforrareobesity.com/genetic-testing-obesity/program

Patient Eligibility Criteria

  • ≤18 years or younger and a BMI ≥ 97th percentile or
  • ≥19 years or older with a BMI ≥ 40, and a history of childhood obesity before age 10

In Office or Home Testing

We offer in-office testing using oral swabs. Patients opting for home testing will have a saliva sample kit mailed to their home. Once the sample is submitted, your obesity medicine specialist will receive the results within 3 weeks and discuss them further with you.

Up to 2 genetic counseling sessions available for patients

Rhythm provides patients with access to a certified genetic counselor. One session is before the results are given and the other session is to discuss post-test results. Patients who are interested should contact: PWN Health at gc@pwnhealth.com.

Get Started

To request an appointment or to learn more about our non-surgical weight loss options with proven results, please complete the short form on this page.