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For patients and families

Your genetic test, from the first step to the result.

Understand why a test may be considered, how the sample is collected and how the report connects to your health monitoring.

Three people smile together at home
People before tests

Each investigation starts with a person, a question and a story.

Choose
Guided by clinical need
sample collection
With instructions for each sample
Result
Digital and secure report
Continuity
Monitoring Infinity VUS

Greater diagnostic power

GENOME: the broadest investigation to search for a genetic cause.

NeoGenoma analyzes both the parts of genes used to produce proteins and other regions of DNA, in addition to looking for more types of alterations than targeted tests or the exome. Therefore, it is the test with the greatest diagnostic power of NeoGenomica for a broad first-line investigation.

  1. 01

    NeoGenoma

    It is the main broad diagnostic option: it looks for small variants, changes in copy number, part of the structural changes and the mitochondrial genome in a single investigation.

  2. 02

    NeoGenoma Omni

    Combines short and long readings. It is the option with the highest technical resolution and diagnostic power in the portfolio when difficult regions, repetitions or complex structural changes may be relevant.

  3. 03

    Amplitude is no guarantee

    Even the most extensive examination may not find the cause. The choice considers signs, family history, previous tests and mechanisms that may require targeted analysis.

For patients and families

Information for each stage of the journey.

Start with the topic that comes closest to your question.

Return to patient area

Test day

A clear process, with guidance at each stage.

The flow and type of sample vary depending on the test. The team confirms requirements before sample collection.

  1. 01

    Guidance and request

    Clinical need, history, and previous tests help define the scope.

  2. 02

    Sample collection

    Mouth swab, blood or other indicated material is collected according to the instructions received.

  3. 03

    Expert analysis

    The sample goes through quality control, sequencing, data processing and specialized review.

  4. 04

    Report and clinical conversation

    The result is available with interpretation and should be discussed in the patient's context.

Understand the result

The report organizes findings — it does not replace clinical conversation.

The meaning depends on the examination performed, the available evidence, and the relationship between the findings and the health history.

Understand my result
  1. 01

    Relevant finding

    The report describes the variant, its classification and how it can relate to the question that motivated the test.

  2. 02

    No conclusive finding

    A result without a definitive explanation does not exclude all genetic causes or, in itself, and the investigation.

  3. 03

    Variant of uncertain meaning

    A VUS does not yet have enough evidence for a conclusion. It does not confirm diagnosis nor should it guide clinical decisions.

  4. 04

    Follow-up

    Reported VUS remain in Infinity VUS and may be reviewed as new relevant evidence emerges.

Post-report follow-up Infinity VUS

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.

  1. 01 · Monitor

    Periodically compares reported VUS with new evidence and classifications.

  2. 02 · Review

    A material change is forwarded for expert review before any communication.

  3. 03 · Update

    When the reclassification is confirmed and applicable to the case, the responsible team is notified and the report can be updated.

Understand results and Infinity VUS

Frequently asked questions

Before taking the test.

Do I need to know which test to order?

No. Tell the team what your question is and whether there is a medical request, family history or previous results. This information helps guide the next step.

Can I collect it at home?

Many tests accept oral swabs collected with a home kit. Others require blood or specific material. Please confirm suitable option before collecting.

How long does it take for the result to be ready?

The deadline varies depending on the test, the sample and the need for additional steps. The estimate applicable to your order is provided by the team.

How is my genetic data treated?

Personal and genetic data are processed in accordance with the stated purposes, access controls and applicable legislation. See also the NeoGenomica privacy policy.

Next step

Start with your question, not the name of the test.

Explain the context and receive guidance on tests, sample collection and necessary documents.

Speak to the team