Beyond the exome
Includes clinically relevant coding and non-coding regions, respecting the technical and quality limits of the test.
WGS Whole genome sequencing
GENOME: the test with the greatest diagnostic power for a broad investigation.
NeoGenoma expands the search beyond the exome, with analysis of nuclear and mitochondrial DNA guided by the clinical picture. Greater diagnostic power does not mean a guarantee of finding the cause.
Compare test strategies- Methodology
- WGS
- Scope
- Nuclear + mitochondrial
- Deadline for results
- Up to 20 calendar days
- Post-report
- Infinity VUS included
Clinical scope
What the genome adds to research.
The value is not just in the volume of data, but in the possibility of bringing together signals from different regions and scales in a case-driven analysis.
Different scales
The analysis includes sequence variants, copy number changes, structural variants and mitochondrial DNA.
Data that can be revisited
The broad dataset can support future reanalyses, while reported VUS remain tracked by Infinity VUS.
Clinical indication
When choosing NeoGenoma.
A choice to initiate or expand the investigation when the objective is to evaluate as many hypotheses as possible in a single examination.
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01
Broader initial investigation
When the clinical question asks for a comprehensive view, without limiting the analysis to coding regions only.
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02
Results still inconclusive
When panels, exome or previous evaluations did not explain the clinical picture.
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03
Broad or atypical phenotypes
Multisystemic conditions, atypical presentations, or broad genetic hypotheses.
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04
Variants beyond the exome
When structural, deep intronic, regulatory or mitochondrial variants may be relevant.
Test choice
Genome, exome or panel?
The strategy must accompany the clinical question. NeoGenoma offers the broadest scope; Exomes and panels can be chosen when the investigation is more limited.
| Feature | NeoGenoma | Exome | Dashboard |
|---|---|---|---|
| Scope | Complete genome* | Coding regions | Selected genes |
| Genes analyzed | ≈ 22.000 | ≈ 22.000 | According to the panel |
| Changes investigated | SNVs, indels, CNVs > 1 exon, mitochondrial DNA, intronic and regulatory regions; some expansions | SNVs, indels, CNVs > 3 exons and mitochondrial DNA | According to the panel and methodology |
| Reanalysis | Wide | Restricted to the exome | Restricted to captured genes |
- Scope
- NeoGenomaComplete genome*
- ExomeCoding regions
- DashboardSelected genes
- Genes analyzed
- NeoGenoma≈ 22.000
- Exome≈ 22.000
- DashboardAccording to the panel
- Changes investigated
- NeoGenomaSNVs, indels, CNVs > 1 exon, mitochondrial DNA, intronic and regulatory regions; some expansions
- ExomeSNVs, indels, CNVs > 3 exons and mitochondrial DNA
- DashboardAccording to the panel and methodology
- Reanalysis
- NeoGenomaWide
- ExomeRestricted to the exome
- DashboardRestricted to captured genes
* Coverage note: “Full genome” describes the intended scope of the scan, not a guarantee of reading every base. Repetitive regions, regions of high homology, or regions with insufficient coverage or quality may not be adequately sequenced or analyzed.
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.
Test day
From indication to report.
A structured flow to preserve sample quality, incorporate clinical data and support result interpretation.
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01
Medical request
The diagnostic hypothesis and phenotypic data guide the analysis strategy.
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02
Sample collection
Blood or mouth swab, as per team guidance and case requirements.
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03
Clinico-genomic analysis
Sequencing, bioinformatics processing and specialized review of findings.
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04
Report and follow-up
Result within 20 calendar days and monitoring of reported VUS.
Clinical interpretation
What the report gives to the requesting doctor.
The findings are organized in relation to the diagnostic hypothesis, with evidence, classification and technical limits.
- Clinical summary of relevant findings
- Evidence and classification of variants
- Technical and family recommendations when applicable
Real excerpt from the NeoReport demonstration environment, cut without personal data.
Frequently asked questions
Clinical and operational questions.
What is the main difference between genome and exome?
The exome is mainly concentrated in coding regions. The genome extends the investigation to non-coding regions and offers a more uniform data set for different classes of variants.
Does “complete genome” mean that the entire base will be properly read?
No. The term describes the intended scope. Repetitive regions, regions of high homology, or regions with insufficient coverage or quality may not be adequately sequenced or analyzed.
What changes does NeoGenoma investigate?
The analysis includes sequence variants, copy number changes, structural variants and mitochondrial DNA, in addition to clinically relevant non-coding regions, according to the technical criteria of the test.
Does the test require a medical request?
Yes. The request and clinical information are essential to guide the analysis and relate findings to the patient's phenotype.
How is sample collection done?
The sample can be blood or a mouth swab. The team guides the most appropriate material, preparation, sample collection and sending according to the context of the case.
When will the report be ready?
The deadline is up to 20 calendar days after receipt of the sample and the clinical information necessary for analysis.
What happens when the result is not conclusive?
A result without a conclusive finding does not necessarily and the investigation. The dataset can be re-evaluated as new genes, variants and evidence become known. It is also possible to request only the long-read complement to extend the examination to the scope of NeoGenoma Omni, subject to the technical feasibility of the stored sample.
Next step
Discuss the case with our team.
Our team guides the request and gathers the clinical information that qualifies the analysis.
Catalog information
Technical data of NeoGenoma
Broad investigation of the nuclear and mitochondrial genome, guided by the clinical picture.
- Applications
- Rare and hereditary diseases, Genome-wide investigation
- Accepted samples
- peripheral blood, Mouth swab, DNA extraído, Líquido amniótico
- Estimated deadline
- 20 calendar days, contados após the complete documentation.
- Methodology
- Whole genome sequencing (WGS) with short reads.
- Analytical scope
- Nuclear and mitochondrial genome; SNVs, indels, CNVs, structural variants and regions beyond the exome, within the validated technical scope.
- Medical request
- Required
Requirements
Medical request, diagnostic hypothesis, phenotypic data, family history, accepted sample and necessary clinical information.
Limitations
Repetitive regions, regions of high homology, or regions with insufficient coverage or quality may not be adequately sequenced or analyzed.
