What can explain the picture?
The team brings together signs, evolution, tests and family history to describe the clinical question that will guide the analysis.
NeoGenoma UTI
At a sensitive time, hospital staff may consider a comprehensive DNA analysis as a priority stream when a genetic condition is suspected. NeoGenoma UTI seeks information that can help understand the situation and support the next steps in care.
The family participates in the choices with the team that knows the situation and monitors the child.
When can you help
A genetic answer could help the team understand a complex picture.
The genome can be discussed when many causes are possible and an answer has the potential to support care. The indication is individual and no test guarantees diagnosis.
Too many genes in one analysis.
The genome investigates different regions and classes of variants within the validated capabilities of the test, without detecting all possible changes.
Result together with care.
If there is a relevant finding, it is related to clinical information and may require confirmation or further evaluation.
Coordinated care
The decision and action take place in the hospital.
Genomic analysis is part of a larger investigation and does not replace stabilization, treatment, imaging tests, laboratory tests or other measures defined by the team.
- 01
Assistant team
Evaluates the indication, gathers clinical information, maintains intensive care and interprets any findings in the patient's context.
- 02
Hospital
Coordinates authorizations, documentation, sample collection, identification and transportation according to its flow and laboratory guidelines.
- 03
Family or guardian
Receives explanations, asks questions and participates in consent according to applicable rules and the clinical situation.
- 04
Laboratory
Checks the sample and information, performs the contracted test and communicates the result through channels defined with the team.
Journey stages
From the indication to the conversation about the result.
The actual flow depends on the hospital, clinical condition, available samples and the test defined by the team.
Discussion of the nomination
The team explains why they consider the genome, what it can look for, its limits and how a result could be used.
Consent
The person responsible receives information about analysis, possible results, data, additional findings when applicable and participation of family members.
sample collection and shipping
The hospital identifies and collects the indicated sample. Samples from parents or other family members may be requested when they help with interpretation.
Framework-driven analysis
The genome data is evaluated together with the manifestations reported by the team and the test quality controls.
Return of result
The assistant team relates the report to the clinical evolution and talks to the family about meaning, limits and next steps.
Consent and samples
The family participates in the choices and can ask questions.
Even in a highly complex environment, the team must explain the purpose of the test, the use of the samples and the possible results as clearly as the situation allows.
- 01
Child sample
The type of sample is defined by hospital flow and test requirements. The team explains the sample collection and any need for a new sample.
- 02
Parent samples
Comparing samples can help understand whether a change was inherited or appeared for the first time in the child. Each family member receives information and separately authorizes the use of their own sample and data.
- 03
Preferences and findings
The consent must explain what the test looks at, the choices available, and the policy for findings outside the main question, when applicable.
- 04
Data and privacy
Ask who will have access, for what purposes the information will be used, and what rules apply to keeping samples and data.
Possible results
The result may clarify the picture — or indicate that the search needs to continue.
All results have limits. The assistant team assesses whether the finding matches the picture and whether it can support a decision.
A possible explanation.
An alteration classified as pathogenic (disease-causing) or probably pathogenic can support a diagnosis when it matches the signs and the form of inheritance.
No explanatory findings.
This does not exclude a genetic cause. Technical limits, changes that the test does not assess or insufficient knowledge may prevent an answer.
A VUS does not guide conduct.
A variant of uncertain significance does not confirm diagnosis and should not guide treatment, surgery, prognosis, surveillance or predictive testing.
Infinity VUS: All NeoGenomica tests include monitoring of reported VUS. This follow-up does not transform VUS into a diagnosis; Any reclassification needs to be communicated and reinterpreted in the clinical context.
Important limits
Genome wide does not mean complete answer.
Available technology and knowledge do not address or interpret all possible causes of illness.
- 01
Not every region is read the same way
Some areas of DNA have insufficient coverage or quality and may require another method.
- 02
Not all types of changes are detected
Certain DNA repetitions, chemical changes, changes present in a few cells or complex reorganizations may be beyond the scope of the examination.
- 03
Knowledge changes
A variant may not yet have sufficient evidence, and the relationship between genes and diseases continues to evolve.
- 04
Care does not wait for DNA
The team makes support, investigation and treatment decisions based on the clinical picture and available evidence, without depending on a genetic response.
What the guidelines say
In some cases, the exome or genome may enter the investigation early.
This does not mean that every child needs these tests. The team considers signs, urgency, tests already performed, and other methods that may be necessary.
01 · NSGC/AES
Epilepsy without identified cause
The NSGC, in a guideline endorsed by the AES, recommends offering genetic testing to people of any age. Exome, genome or a broad panel can be used in the first step.
02 · ACMGCongenital anomalies, developmental delay or intellectual disability
The ACMG recommends considering the exome or genome in the first or second stage of pediatric investigation of these conditions.
03 · IPCHiPUnexplained neonatal hypotonia
A consensus of experts from IPCHiP member centers recommends rapid exome or genome as an initial option for babies in the neonatal ICU with hypotonia without an clarified cause.
04 · AAPGlobal developmental delay or intellectual disability
The AAP recommends exome or genome in the first step in most circumstances. Other tests can also be part of the initial assessment.
How to interpret: “first line” or “first stage” describes when a test can enter the diagnostic strategy; does not guarantee diagnosis or replace clinical evaluation, genetic counseling or targeted tests indicated for the case. Each item opens the original publication.
Questions for the team
What can the family ask?
Could the genome be one of the first genetic tests?
Yes, in some situations. Guidelines include exome or genome among the initial options for certain pediatric conditions, such as global developmental delay, intellectual disability, some congenital anomalies, epilepsy without an identified cause, and unexplained neonatal hypotonia. This does not mean that every child needs to have a genome done; the choice depends on clinical assessment. See recommendations and sources.
Why is the genome being considered now?
Ask the team to explain the genetic suspicion, which alternatives have already been evaluated, and how a response could support care.
Is it necessary to collect samples from parents?
Not always. Comparison can improve interpretation in some cases, but depends on strategy and availability. Each person separately authorizes their participation.
The test may not find the cause?
Yes. An unexplained result does not exclude genetic origin and may lead to other evaluations depending on clinical evolution.
Does every result change the treatment?
No. Some findings can support decisions, others clarify diagnosis or advice, and some do not change immediate care. A VUS should not guide conduct.
Who talks to the family about the report?
The return is coordinated by the assistant team according to the hospital flow, with the participation of genetics professionals when available or indicated.
Does the test replace other care in the ICU?
No. Genomic investigation takes place alongside treatment and other assessments defined for the child.
Next step
Know the protocol and talk to the team accompanying the child.
The hospital team can clarify why the test was proposed and how the flow will be conducted. NeoGenomica can guide the hospital on access to NeoGenoma UTI.
For patients and families
Information for each stage of the journey.
Start with the topic that comes closest to your question.
