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Endocrinology / MetabolicRare Genetic Diseases of ObesityBardet-Biedl Syndrome (BBS)

Uncovering Rare Obesity Gene Pane

An 87-gene panel assessing monogenic and syndromic causes of early-onset obesity, including genes involved in leptin–melanocortin signaling and ciliopathies.

Accessed through the Uncovering Rare Obesity™ Sponsored Testing Program•Sponsored by Rhythm Pharmaceuticals•Performed by Prevention Genetics

Designed to help patients understand the purpose of testing and what to expect.

For patients

What this test and program do

Sometimes obesity has a deeper cause rooted in your genes, and knowing that can change the path forward. The Uncovering Rare Obesity program offers genetic testing at no cost to you, looking across 87 genes linked to rare genetic diseases of obesity, including genes in the leptin-melanocortin pathway and those associated with Bardet-Biedl syndrome. The program is sponsored by Rhythm Pharmaceuticals, which covers the full cost of the test kit and lab work, so you will never receive a bill. Your doctor can order the test and help you understand what the results may mean for your care.

Who this may help

Could this be right for you or your family?

  • To qualify, all of the following must be met:
    • A healthcare provider confirms at least one of the following is true:
      • The patient is 18 or younger with a BMI at or above the 97th percentile for their age
      • The patient is 19 or older, has a BMI of 40 or higher, and had obesity as a child
      • The patient has a suspected or confirmed diagnosis of Bardet-Biedl Syndrome (BBS)
      • A family member already tested positive on the Uncovering Rare Obesity Gene Panel, and the patient is being tested as a relative
      • The patient does not fully meet the criteria above, but the provider has a compelling clinical reason to request testing (each exception must be approved by Rhythm)

What to expect

How the process works

  1. 1

    Your provider gets a test kit

    Your provider will order the kit they need for your sample. Many clinics keep kits on hand so testing can begin right away.

  2. 2

    Your sample is collected

    Your provider completes the test form with your information and collects your sample during your visit.

  3. 3

    Your sample is sent to the lab

    Your provider submits your test online, prints the forms, signs where needed, and sends everything to the lab using the prepaid materials in the kit.

  4. 4

    Your provider receives results

    After your sample is sent, your provider can track your test and will receive your results when they are ready. They will contact you to review them together.

Cost & coverage

Understanding potential costs

If you qualify for this program, the sponsor works with the laboratory to help make testing more affordable. Many patients pay little or no out-of-pocket cost. Your exact cost will depend on your insurance coverage and the specific criteria of the program, and the lab can explain what to expect before your sample is processed.

Quality & privacy

How your sample and information are handled

Testing is performed by Prevention Genetics, a CLIA-certified laboratory (CLIA 52D2065132) and College of American Pathologists (CAP) certified laboratory (CAP 7185561). Your sample is processed using validated methods and quality controls to support reliable genetic results.

Your health information is handled under privacy and security practices that are intended to align with applicable regulations. For program- and lab-specific details, review the privacy information provided by the laboratory and sponsor.

FAQ

Common questions about this program

What is the Uncovering Rare Obesity genetic testing program for rare genetic diseases of obesity?

Uncovering Rare Obesity is a sponsored genetic testing program designed to help people with early-onset or severe obesity find out if a rare genetic condition may be the underlying cause. The program tests 87 genes linked to rare forms of obesity, including genes in the leptin-melanocortin pathway and genes associated with Bardet-Biedl syndrome. It is available in the United States and its territories, and a healthcare provider places the order on your behalf.

Is the Uncovering Rare Obesity genetic test really free, and who pays for it?

Yes, the Uncovering Rare Obesity genetic test is completely free to you. Rhythm Pharmaceuticals sponsors the program and covers the entire cost of testing, including the sample collection kit and all lab processing by Prevention Genetics. You will not receive a bill, a copay, or any charge for participating in this program.

What kind of sample is needed for the Uncovering Rare Obesity gene panel?

The Uncovering Rare Obesity program accepts either a small blood draw or a buccal swab, which is a gentle cheek swab. Your healthcare provider will help you decide which option works best. A sample collection kit is provided at no cost as part of the program.

How long does it take to get results from the Uncovering Rare Obesity genetic test?

Results from the Uncovering Rare Obesity gene panel are typically available within 2 to 3 weeks after your sample reaches the lab. Your healthcare provider will receive the results and can walk you through what they mean. The program also offers support resources to help with understanding your results.

Is genetic counseling available through the Uncovering Rare Obesity program for rare obesity?

Yes, the Uncovering Rare Obesity program provides support for interpreting your results, including access to genetic counseling resources. This means you and your healthcare provider can get expert guidance on what your test findings may mean for your health and next steps. These support services are part of the program at no additional cost.

Who qualifies for Uncovering Rare Obesity Rare Genetic Diseases of Obesity genetic testing?

Patients may qualify for Uncovering Rare Obesity if they meet the program's eligibility criteria:

  • You have early-onset, severe obesity or a suspected genetic syndrome where obesity is a major feature
  • You are 18 or younger with a BMI at or above the 97th percentile
  • You are 19 or older with a BMI of 40 or higher and a history of childhood obesity
  • You are an immediate family member of certain previously tested patients
  • You have symptoms suggesting Bardet–Biedl syndrome (BBS)
  • You live in the U.S., its territories, or Canada

Test details

  • ConditionsRare Genetic Diseases of Obesity, Bardet-Biedl Syndrome (BBS)
  • Test typeNGS
  • Test code15187
  • Genes / markers
    87
  • Key genes / markersLEP, LEPR, POMC, PCSK1, MC4R, ADCY3, MRAP2, SH2B1, SIM1, BDNF, NTRK2, ALMS1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12
  • SpecimenWhole blood•Buccal swab
  • Turnaround time2-3 Weeks
  • LabPrevention Genetics
  • Program regionUnited States, Canada, US Territories

Next steps

Share this information with your healthcare provider or genetic specialist. They can help determine whether this test and program are appropriate for you.

Or ask your doctor to search for this test by name at Prevention Genetics.

Questions to ask your doctor about Uncovering Rare Obesity Gene Pane

  1. Do you think this test is appropriate for me based on my symptoms and history?
  2. How could the results of this test change my diagnosis or treatment plan?
  3. What are the potential limitations of this test that I should understand?
  4. Should any of my family members also be tested based on my results?
  5. How will we follow up after the results are available?

Notes

See an issue with this program?

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