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 support clinical decision-making and ordering in your practice.
For healthcare providers
Overview
Uncovering Rare Obesity, sponsored by Rhythm Pharmaceuticals, provides a no-cost 87-gene NGS panel targeting leptin-melanocortin pathway genes and Bardet-Biedl syndrome genes to identify monogenic and syndromic causes of obesity. Testing is performed by Prevention Genetics with results typically returned in 2 to 3 weeks. The sponsor covers all kit and testing costs, and ordering carries no prescribing or purchase obligation.
When to consider this test
Patient selection
- To qualify, all of the following must be met:
- At least one of the following eligibility parameters:
- Age ≤18 years, BMI ≥97th percentile
- Age ≥19 years, BMI ≥40, and a history of childhood obesity
- Clinical or suspected diagnosis of Bardet-Biedl Syndrome (BBS)
- Family member to a previously-tested proband (confirm eligibility with PreventionGenetics before test submission)
- Exception requested (compelling clinical reason; subject to Rhythm sponsor approval)
Workflow
How to use this program
- 1
Order kits
Complete the form at Order Kit link to receive in-office sample collection kits. It may be helpful to order kits in advance and keep a few in your office. For all other kits, please login or register at PreventionGenetics.
- 2
Collect sample
Download the Test Requisition Form (use link on the right) and complete with patient information prior to the appointment if preferred. Collect the patient sample.
- 3
Submit test
Submit the test online, enter patient info, and print the barcode form. Have the patient sign where required. Place the signed form and sample in the kit box and return it using the provided shipping bag and label. Wet signatures required.
- 4
Track status and view results
After the sample is mailed, log back into the PreventionGenetics provider portal (Order Here link). Use Test Status to track progress, or Reports to view the final results when available.
Billing overview
Program billing
For eligible patients, the sponsor has arrangements with the laboratory that may reduce or cover some or all of the patient's out-of-pocket cost. Actual cost and patient responsibility vary by program criteria. Refer to lab or sponsor materials for details.
Quality & privacy
Laboratory quality & data handling
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
Frequently asked questions
Which patients are appropriate for the Uncovering Rare Obesity genetic testing program?
The Uncovering Rare Obesity program is designed for patients in the United States or its territories who present with early-onset or severe obesity, or clinical features suggestive of a monogenic or syndromic etiology. Patients must meet the program's defined eligibility criteria. The program accepts both pediatric and adult patients.
What genes and methodology does the Uncovering Rare Obesity panel cover?
The Uncovering Rare Obesity gene panel uses next-generation sequencing to analyze 87 genes associated with rare genetic diseases of obesity, including key leptin-melanocortin pathway genes and Bardet-Biedl syndrome genes. A full gene list is available on the program's website. The panel is performed by Prevention Genetics.
What specimen types are accepted and how are kits obtained for Uncovering Rare Obesity testing?
The Uncovering Rare Obesity program accepts whole blood or buccal swab specimens. Sample collection kits are provided at no cost by the program and can be ordered through the program's website. All kit and laboratory costs are covered by Rhythm Pharmaceuticals.
What is the turnaround time for the Uncovering Rare Obesity 87-gene panel?
Results from the Uncovering Rare Obesity gene panel are typically available within 2 to 3 weeks after the specimen is received by Prevention Genetics. Results can be accessed through the program's online portal. Support for results interpretation, including genetic counseling resources, is available through the program.
Is there any prescribing or purchase obligation when ordering through Uncovering Rare Obesity?
No, ordering through the Uncovering Rare Obesity program carries no prescribing or purchase obligation. Rhythm Pharmaceuticals sponsors the program and covers all costs associated with kit provision and testing. The program is intended as a diagnostic resource to help identify rare genetic etiologies of obesity in eligible patients.
What results interpretation support is available through the Uncovering Rare Obesity program?
The Uncovering Rare Obesity program offers tailored support for results interpretation, including access to genetic counseling resources. These services are provided at no cost as part of the program. Clinicians can also contact the program directly for additional guidance on patient results and next steps.
Which patients are eligible 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:
- Patient has early-onset severe obesity or a suspected genetic syndrome with obesity as a core feature
- Eligibility includes:
- ≤18 years: BMI ≥97th percentile
- ≥19 years: BMI ≥40 with childhood-onset obesity
- Immediate family members of select previously tested patients may qualify
- Patients with clinical features suggestive of Bardet–Biedl syndrome (BBS) may also be eligible
- Patient must reside in the U.S., U.S. territories, or Canada
See an issue with this program?