You and/or your loved one(s) may qualify for FREE genetic testing via a hospital system familiar with ReNU Syndrome, such as Northwell Health in NY, Mt. Sinai in NYC or Boston Children’s Hospital. Not all genetic tests are the same. If ReNU Syndrome is suspected, families should ask whether the test specifically includes RNU4-2. A standard exome test or standard gene panel may not be enough.

Inquire at united@renusyndrome.org for more information based on your location.‍ ‍

  • If you are a parent or clinician for a 3-12 month old with feeding issues, problems with movement or muscle tone, or who has missed developmental milestones, you may benefit from genetic testing. Project FIND-OUT provides free genetic counseling and testing for eligible infants between the ages of 3-12 months.

    Parents / Families: Learn About Enrollment

    Healthcare Providers: Patient Testing Referrals

  • The Undiagnosed Diseases Network (UDN) is a research study funded by the National Institutes of Health. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies.

    Through this study, we hope to both help individual patients and families living with the burden of undiagnosed diseases, and contribute to the understanding of how the human body works.

    Hours: 9am – 5pm ET (Mon-Fri) | Email: UDN@hms.harvard.edu | Phone: 1-844-746-4836 | (1-844-Ring-UDN)

  • ENROLL - email zafiirah.baurhoo@mssm.edu

    If you suspect a family member might have ReNU, you may be eligible for FREE testing. If your family member already has a clinically confirmed genetic diagnosis of ReNU / RNU4-2 or RNU2-2 related disorder and you are interested in participating in the INDEED study, please request a clinical appointment with Dr. Barbosa via MSSMClinicalGenetics@mssm.edu.

    Drs. Ernest Turro and Mafalda Barbosa at the Icahn School of Medicine at Mount Sinai have established the INDEED research study to investigate ReNU and other newly discovered genetic conditions. Dr. Turro leads one of the research teams that discovered that mutations in RNU4-2 cause ReNU (Greene et al. 2024). His group also discovered that mutations in a closely related gene, RNU2-2, cause a similar neurodevelopmental disorder (Greene et al. 2025). Dr. Barbosa has over 15 years of experience as a clinical geneticist with a focus on diagnosis and medical management of patients with rare neurodevelopmental disorders. The INDEED study offers free research-use DNA sequencing of the RNU4-2 and RNU2-2 genes.

  • If you or your physician are seeking a test to confirm a ReNU diagnosis:

    • Request a standard Genome, and we recommend a trio (including 2 biological relatives, typically parents) whenever possible, as comparator samples significantly support the analysis.

    • When placing the order, note the request to include RNU4-2 in the order or clinical notes as a requested gene of interest.

    Another option, with an easier billing experience for patients, is to order the Exome to Genome Reflex test.

    • When placing the order, note the request to include RNU4-2 in the order or clinical notes as a requested gene of interest.

    • For this option, order as a trio if possible.

    Genome Medical Collaboration: Telehealth genetic experts can provide guidance, order tests, and provide genetic counseling follow up for those without timely access to a genetics provider.

    Epilepsy Partnership Program: This initiative ensures eligible patients can access genetic testing, even if insurance denies coverage or patients lack insurance. 

    Support Services | Billing Support | Phone: 888-729-1206, option 3, and ask to speak with a genetic counselor.

    GeneDx Advocacy page: A list of umbrella organizations, disease-specific organizations, and instructions for finding gene-specific organizations.

  • https://www.baylorgenetics.com/whole-genome-sequencing/

    Pricing: Reach out to the Business Development team at businessdevelopment@baylorgenetics.com to obtain pricing information. Please include the test code of interest, the ordering healthcare facility, and the patient’s insurance plan.

    Financial Assistance: https://www.baylorgenetics.com/assistance/

  • If your organization offers testing for RNU4-2 / ReNU Syndrome, please contact us at united@renusyndrome.org to be added to this site as a resource. We may ask that you provide:

    • Organization or Institution Name

    • Methods & Location(s) for testing

      • Can samples be mailed in, or do people need to schedule a site visit? If a site visit is required, please provide the site location

    • Who to contact, or how to contact, to request testing

    • Approximate cost

      • Is insurance required?

    • Any eligibility criteria

      • Open to pediatric patients?

      • Open to adults?

      • Are any specific requirements or restrictions?

    • Languages accommodated

      • Limited to just English, or is there guidance available for non-English speakers?

    • Location(s) submissions can be provided from

      • Limited to specific states or countries, or can people submit samples from anywhere?

  • Genetic testing looks for changes in a person’s DNA that may explain their symptoms or diagnosis.

    DNA is like the body’s instruction system. It contains the information that helps the body grow, develop, and function. Some genetic tests look at only a small part of that system, while others look much more broadly.

    For ReNU Syndrome, this difference matters.

  • Whole genome sequencing, often called WGS, looks across much more of a person’s DNA.

    Instead of searching only the small protein-coding portion, WGS can look more broadly across the genome, including important noncoding areas that standard exome testing may miss.

  • Whole exome sequencing, often called WES, looks mainly at the parts of DNA that give instructions for making proteins. These protein-coding sections are called the exome.

    The exome is important, but it makes up only about 1–2% of a person’s DNA.

    WES can be very helpful for many genetic conditions. However, because it focuses mostly on protein-coding genes, it does not search the full genome.

  • ReNU Syndrome is caused by changes in a gene called RNU4-2.

    RNU4-2 is different from many genes found through exome sequencing. It is a noncoding RNA gene, which means it does not provide instructions for making a protein.

    Because WES mainly focuses on protein-coding genes, RNU4-2 is usually not included or analyzed well enough on standard exome testing.

    That means a person can have ReNU Syndrome and still receive a “negative” or “no diagnosis found” result from WES

  • Whole exome sequencing is like searching only the major buildings on a map. That can work if the answer is inside one of those buildings, but it leaves out most of the landscape.

    ReNU Syndrome is found in a part of the genetic map that standard exome testing usually does not search.

    Whole genome sequencing is more like searching the full map, including areas outside the small protein-coding portion of DNA. This broader view is needed to include important noncoding regions like RNU4-2.

    For families searching for answers, this is critical. If testing does not include RNU4-2, the diagnosis may be missed.