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. We also have a Center of Excellence network that you can reach out to.
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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.
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Who Can Join
Country: SPARK is for all individuals living in the U.S. with a professional diagnosis of autism and their family members
Age group: All ages are welcome
Services: Provides free genetic testing
How to Join:
Create an account online
Agree to share data and genetic information
Registration takes about 20 minutes
What Participation Means
Participation is online and free
Your information will be kept private and secure
Answer questions about your autism experience
Return your saliva kit if you agree to genetic research
Learn about additional research opportunities
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Country: United States only.
Age group: Infants aged 0 to 12 months (typically focusing on symptoms emerging around 3 to 12 months).
Services: Provides free neurological assessments, whole genome sequencing, and genetic counseling for eligible participants nationwide in the U.S
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
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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)
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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/
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Global Customer Support: https://www.centogene.com/about-us/contact-us/
Centogene panels that include RNU4-2: RNA, U4 small nuclear 2
CentoNeuro Upgraded Genome (largest neurology panel)
CentoPediatric Dysmorph Comprehensive Genome
CentoPediatric Neuro - Epilepsy Genome
CentoPediatric Neuro - NDD and ASD Genome
CentoPediatric Neuro Comprehensive Genome
Epilepsy panel Upgraded Genome
Regional support available for:
APAC | Brazil | Canada | LATAM | Mexico | Spain & Portugal | UAE | US
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Genetics and Genomics Diagnostic Laboratory
Samples can be mailed to: 3333 Burnet Avenue Room R1042 Cincinnati, OH 45229 along with a completed test requisition form signed by the referring healthcare provider.
Contact Information
513-636-4474
The laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Billing
Institutional billing is required.
Contact our laboratory billing team by calling 866-450-4198 or by sending an email to HG_LabBillers@cchmc.org with any questions about billing.
Eligibility Criteria
Unexplained developmental delays or clinical findings that overlap with ReNU syndrome, such as intellectual disability, unique facial features, gait differences, short stature, hypotonia, and seizures
Confirmation of diagnosis in a symptomatic individual
Pre-symptomatic testing for at-risk relatives
Prenatal diagnosis in families with an identified RNU4-2 variant
Languages Accommodated
English
Location(s) Submissions can be Provided From
Options vary, please contact the laboratory with questions about how to order testing.
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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.
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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?
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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.
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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.
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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.
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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
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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.
🧬 Every day, families continue searching for answers that don't yet have a name
💔 Imagine not knowing your child has fragile bones until the first fracture.
⚡ Imagine not knowing seizures may be part of their future until the day the first one happens.
🗣️ Imagine spending years wondering why your child isn't speaking, never realizing that introducing an AAC device earlier could have opened the door to communication sooner.
🤍 Imagine carrying the weight of wondering if you did something wrong during pregnancy or after birth, only to later learn it was a de novo genetic condition that was never your fault.
✨ Now imagine the POWER of KNOWING ✨
A diagnosis doesn't change the condition, but it changes everything else.
✅ It provides answers.
🏥 It guides medical care.
🔎 It helps families anticipate complications instead of reacting to them.
🤝 It connects them to a community that understands.
🧪 It gives researchers the opportunity to develop treatments
📊 Emerging research suggests ReNU syndrome may account for approximately 0.4% of all neurodevelopmental disorders, representing an estimated 100,000+ people worldwide. Yet fewer than 500 individuals have been identified.
That means tens of thousands of children and adults may still be living without answers! 🚨 We have to find them.
We must improve awareness and expand access to Whole Genome Sequencing (WGS), because Whole Exome Sequencing (WES) often misses ReNU syndrome, to ensure that families receive the diagnosis they deserve
💙 Every diagnosis changes a life.
💙 Every family deserves answers.
💙 Every person deserves to be found.