What was the main finding?
See if the test identified a relevant change, did not find a conclusive explanation or presented a result that is still uncertain.
If your test has already been released, enter the portal to check the report. Here you will also find a clear explanation of possible results and next steps.
The professional accompanying you can relate the result to your health history and the reason for the test.
Where to start
The result makes more sense when read together with the reason for the test, your health history and the guidance from the responsible professional.
See if the test identified a relevant change, did not find a conclusive explanation or presented a result that is still uncertain.
The gene, the associated condition and the form of inheritance must be compatible with the signs and the question being investigated.
The responsible professional relates the report to your case and advises whether there is a need for follow-up, family assessment or other examination.
Possible results
Terms and content vary depending on the test. Always consult your report to find out which analyzes were carried out.
An alteration classified as pathogenic (disease-causing) or probably pathogenic can support a diagnosis when the gene, mode of inheritance, and signs are compatible.
The examination did not find, within its analysis, a change that explains the clinical question. Monitoring continues to be guided by the person's health situation.
There is not yet enough evidence to conclude whether the change is related to the condition. This result should not guide a clinical decision by itself.
In some tests and subject to consent, a clinically relevant finding may be reported that does not explain the main reason for the test. What will be analyzed and the choices available should be discussed before the test.
Depending on the examination, the report may contain information related to reproductive planning, risks or response to medications. Each purpose has its own meaning and limits.
When there is no answer
The report shows what was possible to find and interpret in that test, with the sample and knowledge available at the time of analysis.
Some regions and types of change require another method, sample, or additional analysis.
A change may be detectable, but its relationship to a condition may not yet be known.
The signs may have an as-yet-unidentified genetic cause, non-genetic causes, or a combination of factors.
The professional may consider clinical evolution, family information or another investigation strategy, according to each case.
Science evolves. The interpretation of a variant may also evolve.
All NeoGenomica tests include Infinity VUS for variants of uncertain significance that are reported.
A variant of uncertain significance, or VUS, is a finding for which the available evidence does not yet allow us to conclude whether it is related to the disease. Infinity VUS monitors classification updates even after the report is issued.
Periodically compares reported VUS with new evidence and classifications.
A material change is forwarded for expert review before any communication.
When the reclassification is confirmed and applicable to the case, the responsible team is notified and the report can be updated.
Uncertain outcome
A possible reclassification depends on new evidence and may or may not change the meaning of the result for a person.
Consultations and decisions continue to be based on signs, history and other available evidence.
Confirm with the doctor and the test team which data must be kept updated and who receives any communications.
New signs, diagnoses in the family or results from relatives may justify another professional evaluation of the case.
Family and preferences
Sharing the report or evaluating relatives requires adequate guidance, respect for privacy and individual authorization.
Before the test, ask if they are part of the analysis, what categories can be reported, and what choices consent allows.
An uncertain variant alone should not be used for predictive testing. When there is a clinically relevant finding, a qualified professional must guide the family strategy.
Each adult authorizes the use of their sample and data. For children and adolescents, the guardian authorizes and the young person receives age-appropriate explanation and participates in the decision when possible.
Next steps
Keep the complete report and record the instructions received. If you still have doubts, prepare a conversation with the responsible professional.
Frequently asked questions
Not automatically. “Pathogenic” means that there is evidence that the change can cause disease. It is still necessary to check whether the gene, the form of inheritance and the person's signs are compatible.
A VUS should not guide treatment, surgery, surveillance, prognosis, or predictive testing. Talk to your doctor about decisions based on the clinical picture and conclusive evidence.
There is no guarantee that a VUS will receive sufficient evidence to change its classification. When a relevant change is confirmed and applicable, it goes through the review provided in the Infinity VUS flow.
Not necessarily. Care is guided by the clinical situation, not just genetic testing. The responsible professional provides follow-up and possible additional assessments.
Next step
Access the portal to consult your documents. If any term is not clear, gather your doubts and talk to the professional who knows your story.
For patients and families
Start with the topic that comes closest to your question.