Genetic Testing and Counseling
Finding answers can begin with knowing which questions to ask.
Whether your family is searching for a diagnosis or trying to understand an RNU2-2 result, this page can help you prepare for a genetics appointment and explore testing and support resources.
BEFORE YOU ARRANGE TESTING
Ask whether the test specifically includes RNU2-2.
Whole genome sequencing is currently the most reliable test for finding RNU2-2 changes. Standard exome sequencing and most gene panels do not include this gene, so a previous negative genetic test does not rule out ReNU2.
Even with genome sequencing, ask your clinician to confirm that the laboratory analyzes and reports RNU2-2. The name of the test alone does not tell you whether it is included.
Some research groups are developing expanded exome tests that add RNU genes, but these are not yet routinely available.
Where to begin
Speak with your child's pediatrician, neurologist, clinical geneticist, or genetic counselor. Bring copies of previous genetic test reports and explain that you would like to know whether RNU2-2 has been assessed.
A genetics professional can help you understand testing options, review results, and discuss what they may mean for your child and family.
If your child already had genome sequencing without a diagnosis, ask whether the existing data can be reviewed again with RNU2-2 specifically considered.
Questions to bring to your appointment
Did previous testing adequately assess RNU2-2?
Does the proposed test analyze and report RNU2-2 variants?
Would new testing or a review of existing results be more appropriate?
Would samples from biological parents help interpret the findings?
What might we pay for testing and genetic counseling?
Who will explain the results and help us plan next steps?
FOR ELIGIBLE INFANTS IN THE UNITED STATES
Project FIND-OUT
A research study offering whole genome sequencing and genetic counseling for babies under 12 months old with at least two qualifying symptoms. The program's pages list different age ranges, so please confirm eligibility with the program directly.
The program may bill your child's insurance to help cover testing and will tell you about any co-pays before you continue. Specialist visits or follow-up testing may have separate costs.
FOR PEOPLE WHOSE CONDITION REMAINS UNDIAGNOSED
Undiagnosed Diseases Network (UDN)
An NIH-funded research study that brings together clinical and research specialists to investigate difficult-to-diagnose conditions.
Applying requires a referral letter from a healthcare provider, and a UDN clinical site reviews each application. Acceptance and a diagnosis are not guaranteed. Ask about evaluation costs, travel, and available assistance.
Learn how to apply
UDN@hms.harvard.edu · 1-844-746-4836
CLINICAL GENOME TESTING, ORDERED BY A CLINICIAN
GeneDx
GeneDx offers genome sequencing ordered through healthcare professionals. Before ordering, ask your clinician to confirm the laboratory's current RNU2-2 analysis and reporting.
Costs depend on the test and your insurance. GeneDx offers billing support and a financial assistance program for eligible families.
Genetic counseling
A genetic counselor can explain testing options and limitations, help interpret a report, and discuss what results may mean for relatives. Bring previous reports, relevant medical history, and the questions that matter most to you.
Ask your healthcare team about a local genetics service or a telehealth appointment. Counseling and laboratory testing are often billed separately.
Already have an RNU2-2 result? Ask your genetics team to explain the exact variant, its classification, and whether testing other family members is recommended.
Families outside the United States
The programs above are mainly for people in the United States. Ask your local physician or clinical genetics service what testing is available in your country, and whether the laboratory includes RNU2-2 in its analysis.
Questions about testing?
We can help you find information and connect with families who have been through it. Email support@renu2.org.
For testing providers and research teams: does your organization offer testing that includes RNU2-2? Please email support@renu2.org with your testing method, eligibility, locations served, costs, and referral information.
Resource information reviewed September 2026. Programs and laboratory capabilities may change. Eligibility, testing decisions, and interpretation of results are determined by the relevant healthcare professionals and programs.