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
NeoExoma: broad genetic investigation.
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.
- Accepted samples
- Peripheral blood, Buccal swab, Extracted DNA, Amniotic fluid
- Turnaround time and when it starts
- 20 calendar days, after acceptance of the sample
- Medical order
- Required. View requirements and limitations.
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.
Follow-up after the report
The test ends with the report. The investigation does not.
In NeoGenoma and NeoExoma, Infinity Genes and Infinity VUS keep following the case after the report is issued.
Infinity Genes
Included in NeoGenoma and NeoExoma, with no new sample collection and no extra cost.
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01 · New genes
Each new OMIM gene-disease association incorporated by the team is cross-checked against the stored rare variants of the patient, considering inheritance and zygosity.
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02 · Monthly reanalysis
Every month, negative exomes and genomes are reanalyzed with PanelApp, ClinVar and the phenotype of the patient (HPO). Only new evidence raises an alert.
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03 · Team review
Every alert is reviewed by the team, and confirmed findings are communicated to the requesting physician.
Infinity VUS
Included in all tests.
Every week, reported VUS are compared with ClinVar. A relevant reclassification goes through specialist review and, when confirmed, the physician is informed and the report may be updated.
Understand results and Infinity VUSTesting process
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.
View the NeoExoma report.
Report preview
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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.
Test information
Technical details for NeoExoma
Method, scope, requirements and limitations
Whole exome with mitochondrial genome co-capture and clinical interpretation.
- Applications
- Rare and hereditary diseases
- Accepted samples
- Peripheral blood, Buccal swab, Extracted DNA, Amniotic fluid
- Estimated turnaround time
- 20 calendar days, after acceptance of the sample
- 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 order
- 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.
Additional information
A negative result does not exclude a genetic condition. Mitochondrial sensitivity varies depending on tissue, coverage, variant and heteroplasmy. Infinity VUS included.
