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
Choice guide
The same broad indication, with different ranges.
NeoExoma, NeoGenoma and NeoGenoma Omni can investigate the same rare or hereditary disease. As the detection scope grows, the potential to find variants that the previous level does not reach increases.
- Indication
- Broad investigation
- Territory
- Exome to genome
- Sensitivity
- More variant classes
- Choose
- Clinical and technical context
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.
Technical comparison
The scope changes with the methodology.
The table summarizes general differences. Coverage, sensitivity and limits vary depending on region, variant, sample quality and validated scope of each test.
Swipe to compare
| Feature | NeoExoma | NeoGenoma | NeoGenoma Omni |
|---|---|---|---|
| Main territory | Coding regions + mtDNA | Nuclear and mitochondrial genome* | Genome with short and long reads* |
| SNVs and small indels | Yes, in the captured scope | Yes | Yes |
| Non-coding regions | They are not the main target | Evaluable regions | Evaluable regions, with additional resolution |
| Structural variants and CNVs | More limited scope | Genomic analysis | Increased resolution for long reading |
| Repeats and high homology | Relevant limitation | May remain ambiguous | Expanded investigation |
| Future reanalysis | Restricted to captured exome | Genome-wide set | Integrated set of two readings |
| Hiring in stages | Does not apply | It could be the first stage of a subsequent expansion | Complete from the beginning or only the complement after NeoGenoma without diagnosis |
* Coverage note: “Full genome” describes the intended scope, not a guarantee of reading every base or detecting every change. Repetitive regions, of high homology or of insufficient quality may not be adequately analyzed.
Clinical decision
The indication remains. The range is what changes.
The three tests serve the broad investigation of rare and hereditary diseases. Phenotype, history, previous scans, and relevant variant classes help you decide which level to start at.
- 01 · Common indication
Heterogeneous presentations, suspicion of a monogenic condition or previous investigation with no response may justify any of the three levels.
- 02 · NeoExoma
It starts with the coding territory, where most of the known finds are concentrated.
- 03 · NeoGenoma
Expands the same search to non-coding regions and more classes of variants, with more uniform coverage.
- 04 · Omni
Adds long reads when expansions, balanced rearrangements, pseudogenes, or complex regions may escape short reads. It can be hired from the beginning or as a complement to an unresolved NeoGenoma.
Mosaicism in low fraction: calls for high depth and sample evaluation; therefore, the NeoExoma Mosaico remains a specific strategy, outside this progression of scope.
ASD and neurodevelopmental delay: when the question includes CNVs and Fragile X, the NeoGenoma TEA brings together complete genome and dedicated analysis of FMR1 in the same stream.
Frequently asked questions
Before deciding.
Is broader examination always the best choice?+
Greater scope increases the classes of variants investigated, but does not guarantee a diagnosis. A very specific hypothesis, low-fraction mosaicism, a disease that requires another sample, or an out-of-scope mechanism may call for targeted methodology.
Exome, genome and hybrid genome have different indications?+
The broad indication is practically the same: investigating a possible genetic cause when many genes or mechanisms can explain the condition. What changes is the sensitivity to territories and classes of variants; a specific technical suspicion may favor starting at a more comprehensive level.
Can I start with NeoGenoma and expand later?+
Yes. NeoGenoma is requested first and, if the case remains undiagnosed, the team can add the long read add-on for the hybrid analysis. Before that, it confirms whether the original sample still meets the technical requirements.
Does a negative result and the investigation?+
Not necessarily. The cause may be outside the scope or detection limit of the method, in a different sample, or not yet known. The clinical context guides reanalysis or complementary tests.
Do all tests include VUS monitoring?+
All NeoGenomica examinations include Infinity VUS: reported variants of uncertain significance remain under monitoring for relevant classification updates as new evidence emerges.
Expert guidance
Discuss the best strategy for the case.
Our team can advise on scope, sample, documentation and technical limits before requesting.
