NeoExoma
A broad investigation of thousands of genes, focusing mainly on exons.
- SNVs and small indels in captured territory
- CNVs within the validated scope
- Co-capture of the mitochondrial genome
Clinical genomics
From DNA to the report.
From report to clinical decision.
We integrate sequencing, bioinformatics and expert interpretation to transform genetic data into useful information for doctors, patients and families.
- Range
- Service throughout Brazil
- Analysis
- Multidisciplinary team
- Interpretation
- Guided by the clinical context
- Post-report
- Infinity VUS in all tests
For each audience
Right information for those who need it.
Access curated content, services, and next steps for patients and families, clinicians, partners, and research teams.
Clinical need
The question comes before the name of the test.
Each context requires a different coverage strategy, interpretation and response speed. We organize our solutions by clinical objective.
Larger scope genomic testing
A broad indication. Three levels of detection sensitivity.
NeoExoma, NeoGenoma and NeoGenoma Omni can start from the same clinical question: looking for a genetic cause when many genes or mechanisms can explain the condition. What changes is the territory and the set of variants that each technology can sensitively investigate.
NeoGenoma
The test with the greatest diagnostic power for a broad investigation with short readings, with access to regions beyond the exome.
- Evaluable coding and non-coding regions
- Minor CNVs and structural variants
- Findings that may be in genes already known, but poorly covered by the exome
NeoGenoma Omni
The highest resolution and greatest diagnostic power of the portfolio when short and long readings are relevant.
- Repeat expansions and regions of high homology
- Complex inversions, translocations and rearrangements
- Pseudogenes, allelic phase and selected methylation
- Stepped option: NeoGenoma first, long read later if necessary
How to interpret: do not add or directly compare these percentages. Each study evaluated a different population, technology and design. The numbers do not estimate the individual chance of diagnosis and do not measure the performance of NeoGenoma Omni. Phenotype, previous examinations, family strategy, data quality and interpretation also influence the result. In a first-line randomized trial with 1,048 participants, the exome diagnosed 33.8% and the genome 33.6%, similar results. Primary sources: genome after negative investigation, long-read in clinical routine, long-read versus short-read in parallel, long-read after negative exome, HiFi in unresolved families and first-line randomized comparison.
See the full technical comparisonFeatured tests
Technology chosen by clinical question.
Post-report follow-up
Science evolves. The interpretation of a variant may also evolve.
All NeoGenomica tests include Infinity VUS for variants of uncertain significance that are reported.
Your result monitored over time
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.
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01 · Monitor
Periodically compares reported VUS with new evidence and classifications.
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02 · Review
A material change is forwarded for expert review before any communication.
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03 · Update
When the reclassification is confirmed and applicable to the case, the responsible team is notified and the report can be updated.
Method
Sequencing is just the beginning.
Clinical value arises when technology, patient context, and expert review work as a single process.
- 01
Clinical data and family history guide the analysis strategy.
- 02
Bioinformatics and quality control organize the relevant signals.
- 03
Experts review the evidence before issuing the report.
Test day
A clear flow, from order to result.
The journey varies depending on the test and sample needed, but follows the same principles of traceability, quality and clinical interpretation.
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01
Guidance and request
Definition of the test based on clinical need and available documentation.
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02
Sample collection and logistics
Guidance for blood, mouth swab or other recommended material, with tracked shipping.
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03
Expert analysis
Sequencing, bioinformatics and review of findings relevant to the case.
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04
Report and follow-up
Safe delivery of results and monitoring Infinity VUS of reported variants.
Continuity
The result remains accessible.
Digital channels organize documents and information released by the team.
Knowledge
Science in context.
Content to bring together research, care and advances in genomic medicine.
Novo site da NeoGenomica está no ar: uma nova experiência para a medicina genômica
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Infinity VUS agora disponível para todos os médicos: porque a ciência evolui, a interpretação genetics também.
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A Era do Genome: Dr. João Bosco leva a medicina genômica ao palco do TEDx
Read articleFrequently asked questions
Before choosing a test.
How do you know which genetic test is recommended?
The choice considers the clinical question, personal and family history, tests already carried out and the types of variants that need to be investigated. Our team can guide this first step.
Can sample collection be done at home?
Some tests accept home sample collection with a mouth swab or blood sample collection. The team confirms which material and which sample collection location are suitable for each test.
What is Infinity VUS?
It is the monitoring of reported variants of uncertain significance. When a relevant classification change is confirmed after specialist review, the doctor is notified and the report can be updated.
Does NeoGenomica serve all of Brazil?
Yes. sample collection service and logistics are available nationally, depending on the requirements of each test and type of sample.
Next step
Start with the clinical question, not the name of the test.
Tell us the context. We help you understand what information and types of analysis make sense for your case.
