What appeared in the patient
It helps to recognize a variant present in the patient and not identified in the parental samples.
Three exomes, one investigation
Inheritance helps make sense of the patient's findings.
NeoExoma Trio compares the coding regions of the patient and the two biological parents, with co-capture of the mitochondrial genome, to assess the origin, segregation and compatibility of the variants with the clinical picture.
- Samples
- Patient and two parents
- Scope
- Nuclear exome + mtDNA
- Analysis
- Segregation and phenotype
- Post-report
- Infinity VUS included
What the trio adds
The same clinical question seen in three samples.
Healthy people also carry many variants. Family comparison helps organize findings by how they arose and are transmitted.
What came from each family line
It allows evaluating whether variants in the same gene were inherited from different parents and can act together.
What accompanies the inheritance
Shows whether a finding follows a dominant, recessive or X-linked pattern compatible with the disease investigated.
Clinical indication
When to consider NeoExoma Trio?
The indication depends on the phenotype, family history, tests already carried out and the availability of two parental samples.
01
Neurodevelopment
Global delay, intellectual disability, regression, epilepsy or behavioral changes.
02
Congenital anomalies
One or multiple malformations, dysmorphisms or growth changes without a defined cause.
03
Broad or atypical phenotype
Multisystem signs that do not clearly point to a gene or syndrome.
04
New variant suspected
Sporadic condition, especially early onset, with no similar family history.
Scope and limits
The trio improves the context; the territory remains the exome.
Understanding the technical scope is part of interpreting a negative result and deciding between individual exome, trio and genome.
The analysis brings together
Nuclear and mitochondrial exome in a family context.
- Sequence variants in the captured coding regions.
- Comparison of findings between patient and parents.
- Prioritization by phenotype, family history and disease model.
- Mitochondrial genome co-capture and analysis.
The exome does not evaluate the entire genome
Some causes may remain out of reach.
- Non-coding, repetitive or low coverage regions may not be adequately evaluated.
- Expansions, structural variants, methylation, and low-ratio mosaicism may require another methodology.
- Mitochondrial sensitivity varies depending on tissue, coverage, type of variant and heteroplasmy.
- A negative result does not exclude a genetic condition or and the investigation.
The analysis assumes informed biological kinship. Consent, treatment of additional findings and limits of the report must be discussed before sample collection.
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 the three samples to the report.
A coordinated journey to interpret the three exomes as a single clinical case.
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01
Indication and consent
Request, phenotype and family history guide the analysis and scope of the report.
-
02
sample collection of the trio
Patient and parent follow identification, sample collection and shipping requirements.
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03
Sequencing
The three exomes and the co-captured mitochondrial genome undergo quality control.
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04
Conjoint analysis
The findings are compared in light of origin, inheritance and phenotype.
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05
Patient report
The result integrates family evidence and includes follow-up Infinity VUS.
Frequently asked questions
Before collecting the trio.
What is the difference for individual NeoExoma?+
The individual examination interprets the patient's exome. In the trio, the exomes of the parents are analyzed together to add information about origin, segregation and inheritance pattern.
Is it necessary to collect both parents?+
For a trio analysis, yes. When only one parent is available, there may be another strategy, but it provides less inheritance information and should be discussed prior to sample collection.
Do parents receive individual reports?+
The main objective is to investigate the patient. Samples from the parents function as inheritance references. Additional findings depend on referral, consent, and reporting policy.
When can the genome be preferred?+
When variants outside the exome or changes that require a more comprehensive genomic analysis are suspected. The choice depends on the clinical hypothesis and previous tests.
Is the mitochondrial genome included?+
Yes. The assay includes mitochondrial co-capture and analysis; sensitivity may vary depending on coverage, variant, tissue and heteroplasmy.
Decision support
Organize the family investigation with our team.
We provide guidance on eligibility, samples, consent and differences between individual exome, trio and genome.
Catalog information
Technical data of NeoExoma Trio
Patient and family exomes analyzed together to refine interpretation.
- Applications
- Rare and hereditary diseases, Family analysis
- Accepted samples
- peripheral blood, Mouth swab, DNA extraído
- Estimated deadline
- Deadline subject to confirmation by the technical team.
- Methodology
- Sequencing and joint analysis of the exomes of the patient and two parents, with mitochondrial co-capture.
- Analytical scope
- Variants in captured coding regions, family comparison, prioritization by phenotype and mitochondrial genome co-capture.
- Medical request
- Required
Requirements
Request, consent, phenotype, family history and samples from the patient and both biological parents.
Limitations
The family context does not expand the territory of the exome. Non-coding regions, repeats, structural variants, methylation and mosaicism may require another methodology.
