For doctors
Genomics that accompanies clinical decision-making.
From selecting the methodology to interpreting the report, we connect sequencing, bioinformatics and specialized review to the context of each patient.
- Strategy
- Test defined by clinical question
- Operation
- Sample and guided documents
- Interpretation
- Phenotype integrated into the analysis
- Post-report
- Monitoring Infinity VUS
Clinical routes
Choose the scope based on the needs of the case.
Breadth, classes of variants, depth, time frame and availability of family samples change the investigation strategy.
Guidelines and consensus
Exome or genome at the beginning of the investigation.
Epilepsy without identified cause
NSGC recommends offering genetic testing with no age limit. Exome sequencing, genome sequencing, and/or a multigene panel with more than 25 genes are first-line options, with a conditional recommendation of exome or genome sequencing over the panel. The guideline is endorsed by the AES.
02 · ACMGCongenital anomalies, developmental delay or intellectual disability
The ACMG strongly recommends considering exome or genome sequencing as a first- or second-line test in pediatric patients with congenital anomalies of onset before age 1 year or developmental delay/intellectual disability of onset before age 18 years.
03 · IPCHiPUnexplained neonatal hypotonia
A multicenter consensus of experts from IPCHiP member centers recommends rapid genome or exome sequencing as a first-line option in the neonatal ICU, without excluding rapid targeted tests when clinically indicated.
04 · AAPGlobal developmental delay or intellectual disability
The AAP recommends exome or genome sequencing as a first-line test in most circumstances. The algorithm also considers the chromosomal microarray and adapts the sequence to the method and clinical context.
How to interpret: “first line” or “first stage” describes when a test can enter the diagnostic strategy; does not guarantee diagnosis or replace clinical evaluation, genetic counseling or targeted tests indicated for the case. Each item opens the original publication.
Operational flow
From request to follow-up.
A complete order preserves time, traceability and quality of interpretation.
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01
Define the strategy
Indication, phenotype and family history guide method and scope.
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02
Send documents
Request, consent and clinical data accompany the sample.
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03
Collect and transport
The material follows identification, conservation and logistics requirements.
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04
Analyze and review
Sequencing, bioinformatics and curation work as a single flow.
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05
Receive and follow up
The report is released on the portal and reported variants are included in Infinity VUS.
Interpretation
The data only gains value when it returns to the clinical case.
The expert review organizes evidence, limitations and relationships with the phenotype without transforming genetic association into automatic conduct.
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Structured phenotype
Clinical findings and family history direct filters, inheritance and prioritization.
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Evidence curation
Candidate variants are reviewed according to literature, databases and test context.
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Decision-oriented report
Relevant findings, classification, limitations and additional information are presented with a clear hierarchy.
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Infinity VUS
Reported variants of uncertain significance remain under monitoring for relevant reevaluations.
Features
Information to order, collect and track.
The same paths remain accessible throughout the test journey.
Frequently asked questions
Before ordering.
Is the WGS recommended as a first-line test?
Yes, in selected pediatric indications. Guidelines from the AAP, ACMG, and NSGC/AES, in addition to the multicenter consensus linked to IPCHiP, support exome or genome sequencing as first-line, first-tier, or early use in defined clinical populations. The formulation varies by indication: the ACMG recommends first or second line for congenital anomalies, developmental delay or intellectual disability, while other recommendations have their own criteria. Review recommendations and sources.
What clinical data must accompany the order?
Include the indication, main findings, family history, diagnostic hypothesis and previous relevant results. The specific need varies depending on the test.
Is it possible to discuss the strategy before sample collection?
Yes. Please contact the team to discuss scope, available samples, and required documentation before submitting material.
When to consider trio analysis?
Parental samples can help test inheritance models, recognize novel variants, and refine interpretation. The usefulness depends on the case and the availability of family members.
How does an update via Infinity VUS work?
When a relevant classification change is confirmed after specialist review, the requesting physician is notified and the report can be updated.
Case support
Discuss the clinical question before setting the test.
Share the phenotype, previous analyses, and available samples to organize the best strategy.
