Patient & Caregiver Site

FIRST AND ONLY
FREE* GENETIC TEST FOR RARE GENETIC DISORDERS OF OBESITY

*Rhythm Pharmaceuticals covers cost of test only—excludes office visit, sample collection, and any other related costs to patient

Committed to making a difference in the lives of patients with rare genetic disorders of obesity and enhancing access to genetic testing, Rhythm Pharmaceuticals' Uncovering Rare Obesity™ Program offers free* genetic testing for several rare genetic disorders of obesity to eligible patients.

UNCOVERING RARE OBESITYTM PROGRAM

  • TESTING CAN AID IN DIAGNOSIS

    Genetic testing can play an important role in diagnosing many rare genetic disorders of obesity (e.g., MC4R deficiency, Leptin Receptor deficiency), however some can be diagnosed by clinical features alone (e.g., Bardet-Biedl syndrome).

    Genetic test results should be evaluated based on clinical presentation.

  • PATIENTS COULD BE ELIGIBLE FOR CLINICAL STUDIES

    Rhythm has started a registry for patients with certain rare genetic disorders of obesity, and clinical trials of investigational treatments are ongoing. Contact us to learn more about Rhythm-sponsored studies at ClinicalTrials@Rhythmtx.com.

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    GENETICIST AVAILABLE FOR CONSULT ABOUT TEST RESULTS

    Before you review test results with your patient, a geneticist from PreventionGenetics is available for consult.

PROGRAM DETAILS

Multigene Panel Test includes genes potentially associated with several rare genetic disorders of obesity

Test reports on variants in genes potentially associated with several rare genetic disorders of obesity, including:

  • MC4R deficiency
  • Leptin Receptor deficiency
  • Bardet-Biedl syndrome
  • Alström syndrome

Not a test for Prader-Willi syndrome; a different type of genetic test is typically utilized for suspected cases1

Genes included on panel and potentially associated conditions

Test conducted by independent laboratory

DNA testing is conducted by PreventionGenetics, an independent, CLIA-accredited clinical laboratory.

Patients of all ages with severe obesity could be eligible for testing

Patient eligibility criteria†:

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

Select family members of patients who were previously tested may also be eligible for testing. Call PreventionGenetics at 844-513-3994 to learn more.

†Testing available only for patients located in the United States and its territories.

Multiple sample collection options

Blood and buccal swab kits are both available for in-office sample collection, depending on your preference. Saliva-based kits are also available for your patients to collect samples at home; call PreventionGenetics at 844-513-3994 to learn more about this option.

Test results in ~3 weeks

Test results will be sent approximately 3 weeks after the lab receives the sample and completed forms.

Up to 2 genetic counseling sessions available for patients

Rhythm provides your patients access to two sessions with a certified genetic counselor (one pre-test and one post-test results). Encourage interested patients to contact PWN Health at gc@pwnhealth.com. Spanish-speaking genetic counselors are available for patients.

Test materials available in Spanish

Call PreventionGenetics for more information at 844-513-3994.

GET STARTED

Looking to request test kits or have questions about the program?

REQUEST TEST KITS ONLINE
CALL PREVENTIONGENETICS

at 844-513-3994, Monday - Friday
from 9am - 8pm ET

  1. McCandless SE, The Committee on Genetics. Clinical report—health supervision for children with Prader-Willi syndrome. Pediatrics. 2011;127(1):195-204.
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