An in-depth look at genetics.
Data reanalysis and genomic investigation to find clues that may help explain the clinical condition.
About NeoGenômicaSCIENCE AND CARE, FOR THE SAME LIFE
Center for
Undiagnosed Diseases
Your story deserves to be heard. Your search for answers, shared.
There is a whole life
beyond uncertainty.
When symptoms persist and tests do not provide an answer, uncertainty affects the whole family.
We bring together NeoGenômica's genomics and Raras's clinical perspective to revisit this history and seek paths towards better care.
How we can help
WHY A CENTER
Seeking a diagnosis
means finding a way forward.
Understanding what is happening can change treatment decisions, guide follow-up care and help a family plan for the future.
The center aims to bring specialists together to evaluate cases that remain unexplained, even after consultations and testing. Each person's history is reviewed alongside existing results, including those from other laboratories.
Reaching a diagnosis will not always be possible. Care also means explaining what we know, what we do not yet know and which next steps make sense.
A FRESH LOOK AT YOUR STORY
The next step
starts with you.
Your experience, what has already been tried and the questions that remain open are the starting point.
Looking at the whole story
Gather symptoms, family history, consultations and tests. Understand what matters most to you and the doctor following the case.
Your experience is part of the investigation.Reviewing what has already been investigated
Reassessing genetic data in light of current knowledge. A previous test may offer new clues, without starting by repeating everything.
Tests from other laboratories can also be evaluated.Deciding the way forward together
Specialists from NeoGenômica and Raras discuss the case. When needed, they assess additional tests and what the findings may mean for care.
Decisions are individualized and discussed with the treating physician.
TWO TEAMS, ONE PURPOSE
Science that comes closer.
Care that sees the whole person.
Genetic data takes on meaning when understood in the context of a person's life.
An attentive eye on the person.
Clinical expertise in rare diseases to connect symptoms, life history and care needs.
About RarasJoint discussion of every case. The proposal brings both perspectives together in a specialist case board, in dialogue with the patient's treating physician.
SCIENCE IN THE SERVICE OF CARE
More possibilities
to investigate.
Each approach is chosen according to the person's history, previous tests and the question that still needs an answer.
Information also for the doctor who cares for you.
Reanalysis of genetic tests
Knowledge about genes and diseases evolves. Reassessing an exome or genome may help identify clues that could not yet be interpreted when the original test was performed.
Updated clinical information and the quality of available files guide this review.
Genome and long-read sequencing
When an exome does not explain the condition, a genome can broaden the investigation. In selected cases, long-read sequencing can study regions and changes that are difficult to evaluate with other techniques.
Possibilities include repeat expansions, structural variants, phasing and methylation. The indication and limitations are assessed case by case.
RNA: understanding the effect of a change
In some cases, RNA analysis helps investigate how a genetic change affects the way a gene works, for example in the processing of its instructions, known as splicing.
The analysis depends on the clinical hypothesis and the tissue available. A variant of uncertain significance does not, on its own, confirm a diagnosis.
MOVING FORWARD WITH MORE CLARITY
It is natural to have questions.
Some answers to help you understand the proposal.
I have already had many tests. Do I need to start over?
The starting point is to make use of what already exists. The team needs to understand the previous investigation and assess whether the available data supports reanalysis. New tests only make sense when there is a question they can help answer.
My test was done at another laboratory. Can I approach the center?
Yes. The proposal includes evaluating tests from other laboratories. In addition to the report, sequencing files may need to be requested from the original laboratory. The team will assess their format and quality.
Does the center guarantee that I will receive a diagnosis?
No. Even an in-depth investigation may not find a conclusive explanation. The aim is to assess the possibilities rigorously and clearly explain the findings, limitations and next steps.
Do I continue seeing my own doctor?
Yes. The doctor who cares for you remains essential. The proposal is to add a specialist assessment to the investigation and share information that may support your care.
How can I find out about appointments, costs and timelines?
The center is in development. Entry criteria, the submission channel, costs and timelines will be shared once defined. You can seek guidance through the official NeoGenômica and Raras channels listed below.