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Results

For doctors

Testing and clinical decision support.

Find a test, request forms and access reports. Our team supports test selection and interpretation in each patient's clinical context.

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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.

01 · NSGC/AES

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 · ACMG

Congenital 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 · IPCHiP

Unexplained 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 · AAP

Global 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.

  1. 01

    Define the strategy

    The indication, phenotype and family history guide the choice of method and scope.

  2. 02

    Send documents

    Request, consent and clinical data accompany the sample.

  3. 03

    Collect and transport

    The sample must meet identification, preservation and transport requirements.

  4. 04

    Analyze and review

    Sequencing, bioinformatics and expert review work as one process.

  5. 05

    Receive and follow up

    The report is released in the portal, and reported VUS enter the Infinity VUS program.

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.

  1. 01

    Structured phenotype

    Clinical findings and family history direct filters, inheritance and prioritization.

  2. 02

    Evidence curation

    Candidate variants are reviewed according to literature, databases and test context.

  3. 03

    Decision-oriented report

    Relevant findings, classification, limitations and additional information are presented with a clear hierarchy.

  4. 04

    Infinity VUS

    Reported variants of uncertain significance remain under monitoring for relevant reevaluations.

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.

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Infinity Genes

Included in NeoGenoma and NeoExoma, with no new sample collection and no extra cost.

  1. 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.

  2. 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.

  3. 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 VUS

Features

Information to order, collect and track.

The same paths remain accessible throughout the test journey.

PortfolioExplore tests by clinical need. ComparisonCompare genome, hybrid genome and exome. DocumentsRequest updated requirements and terms. Buccal swabReview preparation, identification and shipping instructions for the kit. Medical PortalAccess orders, results and released reports. ApplicationExplore the app for credentialed professionals.

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.

Speak to the team Access Medical Portal