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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 support clinical decision-making and ordering in your practice.

For healthcare providers

Overview

This program provides no-cost genetic testing for patients in the U.S. and Canada with early-onset or severe obesity or features suggesting a monogenic or syndromic cause. The 87-gene panel includes key leptin–melanocortin pathway and Bardet–Biedl syndrome genes, with kits and testing costs covered by the sponsor.

When to consider this test

Patient selection

  • 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

Workflow

How to use this program

  1. 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. 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. 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. 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 qualify for testing?

Eligible patients include those with early-onset or severe obesity, suspected monogenic or syndromic obesity, features of Bardet–Biedl syndrome (BBS), or select family members of previously tested patients. Patients must reside in the U.S., its territories, or Canada.

What genes are included?

The panel evaluates 87 genes associated with monogenic obesity, leptin–melanocortin pathway disorders, and syndromic ciliopathies such as BBS.

What specimens are accepted?

Both blood and buccal samples are accepted. Follow kit instructions for collection, labeling, and shipping.

What is the expected turnaround time?

Reports are typically available about three weeks after the specimen and completed requisition are received.

Is genetic counseling included for patients?

Yes. The program includes one pre-test and one post-test counseling session provided by Metis Genetics. Appointments can be arranged at 1-844-463-8474 or via email.

How do I request kits?

Providers can order buccal or blood kits through the online kit request form or through their PreventionGenetics account.

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

Getting started

Use the links below to review program details, place orders, print requisitions, or request collection kits.

Performing lab

Prevention Genetics

Available in: United States, Canada, US Territories

Order testPrint requisitionOrder collection kitLearn more

Additional Resources

Uncovering Rare Obesity (Canada)

Privacy & ordering: This directory doesn't handle PHI. Orders occur on participating labs' systems. Privacy & Compliance

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