Variants again
It helps to recognize changes present in the patient and not identified in the parents' samples.
Patient + mother + father
The patient's genome in the context of the family.
NeoGenoma Trio jointly analyzes the genome of the patient and both biological parents to recognize the origin of the findings, evaluate inheritance patterns and prioritize variants compatible with the clinical picture.
- Samples
- Patient and two parents
- Scope
- Three genomes analyzed together
- Interpretation
- Phenotype and inheritance
- Post-report
- Infinity VUS included
What the trio adds
The origin of a variant can change its interpretation.
Comparing the three genomes helps to distinguish inherited changes from variants that may have arisen in the patient and to test inheritance models consistent with the clinical history.
Family segregation
Evaluates recessive, dominant, and X-linked models and determines from which parental line a finding was inherited.
Fewer competing hypotheses
Family context helps prioritize variants compatible with the phenotype and reduce less likely findings.
Clinical indication
When to consider trio analysis?
The indication depends on the phenotype, family history, previous tests and the availability of samples from the biological parents.
01
Neurodevelopment
Global delay, intellectual disability, regression, epilepsy or other conditions with broad genetic heterogeneity.
02
Congenital malformations
One or multiple anomalies without a defined cause after the initial clinical assessment.
03
Isolated case in the family
Sporadic presentation, especially early onset, with suspicion of a new variant.
04
Inconclusive investigation
When previous tests have not explained a picture strongly suggestive of a genetic condition.
Scope and limits
Three samples expand the context, not the technical scope.
The trio improves inheritance interpretation, but remains subject to the same methodological limits as NeoGenoma and the quality of the three samples.
The analysis considers
Variants, phenotype and inheritance pattern.
- Small variants, CNVs, and other classes within the validated scope of NeoGenoma.
- Parental origin and inheritance models compatible with the case.
- Relationship between findings, family history and reported clinical signs.
Important limitations
Some questions require another methodology.
Mosaicism at low allele fraction, repeat expansions and certain structurally complex regions may require a specific strategy. When mosaicism is the main suspicion, NeoExoma Mosaico may be the targeted choice; for expansions and structurally complex regions, consider NeoGenoma Omni.
If a parental sample is not available, staff can advise on an alternative individual or family strategy prior to request.
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 flow to interpret the patient and parent genomes as a single clinical case.
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01
Indication and consent
Clinical data, family history, and guidelines for the trio are reviewed.
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02
sample collection of three samples
Patient and parents follow sample collection and identification requirements.
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03
Sequencing
The three genomes undergo processing and quality control.
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04
Conjoint analysis
Variants are compared by origin, inheritance and relationship to the phenotype.
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05
Patient report
The result integrates family findings and includes follow-up Infinity VUS.
Frequently asked questions
Before organizing the samples.
Why are parental samples important?+
They allow checking whether a variant was inherited or emerged in the patient and help interpret combinations of variants in recessive diseases.
Can the test be taken without a parent?+
The Trio design assumes three samples. When one is not available, the team must evaluate whether individual NeoGenoma or another family strategy is more appropriate.
Do parents receive individual reports?+
The main purpose of parental samples is to interpret the patient's case. The reporting of additional findings depends on the indication, consent and defined scope of the examination.
Is a medical request necessary?+
Yes. The diagnostic hypothesis, clinical signs and family history are essential to guide the analysis and interpretation of the trio.
Nomination support
Discuss family strategy with our team.
We provide guidance on eligibility, consent, samples and documentation required for NeoGenoma Trio.
Catalog information
Technical data of NeoGenoma Trio
Conjoint analysis to support interpretation of inheritance and novel variants in the patient.
- Applications
- Rare and hereditary diseases, Genome-wide investigation, Family analysis
- Accepted samples
- peripheral blood, Mouth swab, DNA extraído
- Estimated deadline
- Deadline subject to confirmation by the technical team.
- Methodology
- Complete sequencing and joint analysis of three genomes.
- Analytical scope
- Small variants, CNVs, and other classes within the validated scope of NeoGenoma, interpreted by parental origin, inheritance model, and phenotype.
- Medical request
- Required
Requirements
Medical request, consent, clinical data and family history. The Trio design assumes samples from the patient and both biological parents.
Limitations
The three samples expand the inheritance context, but not the technical scope of NeoGenoma. Low-fraction mosaicism, expansions, and complex regions may require another method.
