Coding regions together
Simultaneously evaluates captured exons of known genes and areas close to splice junctions, according to coverage and technical scope.
Nuclear exome + mitochondrial genome
A broad analysis to search for genetic answers.
In a single test, NeoExoma evaluates the most informative parts of thousands of genes and also mitochondrial DNA. It is an option for investigating hereditary diseases when it is necessary to analyze many genes at once, with interpretation guided by clinical signs and family history.
- Scope
- Nuclear coding regions
- Included
- Co-captured mitochondrial genome
- Interpretation
- Phenotype-driven
- Post-report
- Infinity VUS included
What the test adds
Thousands of genes, organized by a clinical question.
The exome is useful when the hypothesis involves a monogenic disease, but signals may be associated with many genes and a restricted panel may not be sufficient.
Mitochondrial genome included
Mitochondrial DNA is analyzed in the same assay, respecting coverage limits, type of variant, tissue and heteroplasmy.
Patient-driven prioritization
Symptoms, age of onset, tests, family history and clinical hypothesis help to select the most relevant findings.
Clinical indication
When to consider NeoExoma?
The indication must consider the phenotype, family history, previous tests and the types of variant that need to be investigated.
01
Developmental delay
Intellectual disability, global delay, regression or multiple neurological findings.
02
Congenital malformations
One or more anomalies, dysmorphisms or multisystem changes without a defined cause.
03
Complex phenotype
Combination of signs that do not clearly point to a syndrome or small group of genes.
04
Inconclusive panel
When clinical evaluation justifies expanding the search to other coding genes.
Scope and limits
Understand what goes in — and what can stay out.
A negative result does not exclude a genetic condition. The cause may be outside the captured regions, in a variant class not well evaluated by the method, or may not yet be known.
NeoExoma investigates
Variants in the evaluable coding regions.
- Single base exchanges and small insertions or deletions.
- Variants close to splice junctions, according to analytical coverage.
- Findings compatible with genes associated with the reported phenotype.
- Mitochondrial genome co-captured in the same assay.
May require another test
Some changes require another methodology.
- Deep intronic, promoter and regulatory regions are not the main target.
- Repeat expansions, structural rearrangements, methylation, and regions of high homology may require specific investigation.
- Mitochondrial sensitivity may vary depending on tissue, coverage, variant and heteroplasmy.
- Regions with insufficient coverage may not be adequately analyzed.
Test choice
Exome or genome?
The exome focuses the analysis on coding regions. The genome offers greater sensitivity to a broader spectrum of genetic changes from the beginning of research.
NeoExoma
Focus on changes in coding regions.
Analyzes SNVs, indels, CNVs above three exons and mitochondrial DNA in thousands of genes.
NeoGenoma
More sensitivity for a more complete investigation.
It is the preferred strategy when a more comprehensive genetic analysis is required, with greater sensitivity for a broader group of alterations, including smaller CNVs, small structural variants and regions beyond the exome.
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.
An organized clinical journey to investigate the coding regions and mitochondrial genome.
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01
Clinical request
Phenotype, family history and previous tests guide the analysis.
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02
Sample collection
The team informs you of the material, documentation and shipping conditions.
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03
Sequencing
The nuclear exome and co-captured mitochondrial genome are processed with quality control.
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04
Clinical interpretation
Variants are prioritized as appropriate and reviewed by the specialized team.
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05
Report and follow-up
The result organizes the findings and includes the Infinity VUS for the reported variants.
Clinical interpretation
A main result explained in clinical language.
The report highlights the finding related to the condition, describes the variant and presents its interpretation to support the discussion with the requesting physician.
- Objective summary of the main finding
- Gene, variant and classification
- Relationship with reported clinical signs
Real excerpt from the NeoReport demonstration environment, cut without personal data.
Frequently asked questions
Before ordering.
What is the difference between panel and exome?+
A panel evaluates a previously defined set of genes. The exome searches the coding regions of thousands of genes and can be useful when the picture is heterogeneous or the hypothesis is not restricted to a few genes.
Is the mitochondrial genome included?+
Yes. The assay includes co-capture and analysis of the mitochondrial genome. Sensitivity depends on coverage, variant, tissue and heteroplasmy; some hypotheses may require additional investigation.
Does a negative result rule out a genetic disease?+
No. The cause may be out of scope, in a region with insufficient coverage, in another type of variant, or not yet known. The doctor may recommend reanalysis or another method.
When to consider the complete genome?+
When more comprehensive genetic investigation is required, NeoGenoma is the preferred strategy. It offers greater sensitivity to a broader group of alterations, including smaller CNVs, small structural variants, and regions beyond the exome.
Does the test need a medical request?+
Yes. The request and clinical information guide the prioritization and interpretation of findings.
Decision support
Discuss the indication of NeoExoma.
Our team advises on scope, sampling, documentation, and alternatives when genomics may be more appropriate.
Catalog information
Technical data of NeoExoma
Whole exome with mitochondrial genome co-capture and clinical interpretation.
- Applications
- Rare and hereditary diseases
- Accepted samples
- peripheral blood, Mouth swab, DNA extraído, Líquido amniótico
- Estimated deadline
- Deadline subject to confirmation by the technical team.
- Methodology
- Nuclear exome sequencing with mitochondrial genome co-capture.
- Analytical scope
- Evaluable coding regions, small variants, variants near splice junctions, CNVs above three exons and co-captured mitochondrial genome.
- Medical request
- Required
Requirements
Medical request, phenotype, family history and previous tests to guide prioritization and interpretation.
Limitations
It does not primarily target deep intronic, promoter or regulatory regions. Repeats, rearrangements, methylation, high homology, and low coverage may require another method.
