Testing

You and/or your loved one(s) may qualify for FREE genetic testing via a hospital system familiar with RNU2-2-related disorder. Inquire at support@renu2.org for more information.

Project FIND-OUT

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. Learn more about Project FIND-OUT, which 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

Undiagnosed Diseases Network (UDN)

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)

GeneDx

At this time, variants of RNU2-2-related disorder may be discovered via whole genome sequencing (WGS) but NOT via whole exome sequencing (WES). If you or your physician are seeking a test to confirm an RNU2-2 diagnosis, be sure to request WGS. GeneDx may only identify some variants of RNU2-2 at this time.

  • 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.

If your organization offers testing for RNU2-2 / ReNU2, please contact us at support@renu2.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?

  • 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? Any specific requirements or restrictions?

  • Languages accommodated — Limited to 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?

Get In Touch

If you're interested in working with us, complete the form with a few details about your project. We'll review your message and get back to you within 48 hours.