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Atlas
Genómico
Fictitious patient data · Not a medical result
Genomic report

Martín Fernando Gómez

42 years old · Male

Protocol
DEMO-2026-000123
Sample
14/07/2026
Issued
05/08/2026

You are seeing only the results that can change clinical managementYou are also seeing the results that change no clinical management

Levels C and D are replicated, but there is no evidence that knowing them improves an outcome: that is why the report does not open with them.

Scope and limitations

What this test looks at and what it does not. It goes here and not in the fine print because, without it, several results read as the opposite of what they say.

What this test reaches

88
genes with at least 3 known pathogenic variants and more than half of them measured by the chip
1,087
conditions with at least 3 known pathogenic variants and more than half of them measured
9.78%
of the pathogenic variants described in ClinVar, measured by the chip

That last number is the one to keep in mind: the chip measures variants ALREADY DESCRIBED; it does not read the whole gene. That is why it is useful for finding and not for ruling out — variants private to each family and large rearrangements are left out, and in some genes they are a substantial share.

How to read a result from this test

This is not sequencing

A microarray interrogates positions chosen in advance; it does not read the whole genome. Rare variants that are not among those positions are not seen, and they are the majority of the rare variants that exist.

There are mechanisms this technology does not see

Repeat expansions, large deletions and duplications, and structural changes. A negative result says nothing about them.

A negative is worth what the coverage is worth

That is why every row carries how many known variants of that condition the test measures. When that proportion is low, what was measured is still reported, with the figure in plain sight. What is not listed as “no findings” are the conditions in which the test measured no variant of the gene at all: 58 were left out for that reason, because treating them as ruled out would claim something that was never looked at.

A percentile is not a prognosis

Polygenic scores are population-level estimates. A high percentile does not mean the disease will occur, nor a low one that it cannot.

A microarray can call a rare variant wrongly. What to do with each result — including whether it is worth verifying with a targeted method — is decided by the professional who signs the report.

The limitations, one by one

  • 01This report is based on a genotyping array (Infinium GSA v3), which interrogates predefined positions of the genome. It is NOT sequencing: it does not detect rare or private variants, or most insertions/deletions, or structural variants.
  • 02It does not replace a hereditary cancer test. The measurement against ClinVar shows that the chip does interrogate a good part of the pathogenic variants already described in those genes —78% in BRCA1, 82% in BRCA2, 83% in Lynch syndrome— but that is coverage of what is ALREADY KNOWN, not diagnostic sensitivity: variants private to each family and large rearrangements are left out, and in these genes they are a relevant share. It is useful for finding, not for ruling out. With a family history, a targeted diagnostic panel is warranted no matter what this report says.
  • 03Polygenic scores are probabilistic estimates at the population level. A high percentile does not mean that the disease is going to occur, nor does a low one mean that it cannot occur.
  • 04The platform is used for research and wellness purposes (Research Use Only). Findings with clinical implications must be confirmed with a validated diagnostic method before any clinical management decision is made.
  • 05Results in this report must not prompt the initiation, suspension, or change of any treatment without evaluation by a professional.
  • 06Genetic data is sensitive personal data (Ley 25.326, Argentina's personal data protection law). Its processing, retention and any international transfer for processing are covered by the signed informed consent form.

Sources and versions

Every section of this report was computed against public databases, in the version listed here. That detail matters: classifications change over time, and without knowing which version a result was read against, it cannot be reinterpreted later on.

All

  • Illumina GSAMGv3 (versión custom de Macrogen)

    778.783 probes, 723.400 with an rs identifier

    GRCh37 / hg19

Ancestry

Lineages

Pharmacogenomics

Carriers and predispositions

Polygenic risk

  • PGS Catalog

    each score links to its entry, with the PGS identifier

    —
  • 1000 Genomes fase 3

    reference cohort for the percentile, processed through this same pipeline

    2.504 genomas
  • Beagle 5.5

    local imputation against the 1000G panel; nothing leaves the country

    —

This report does not replace a medical consultation

No result here, on its own, is grounds for a decision about your health. If anything in the report raises doubts or concern, take it to your treating physician before taking any action. For questions about the test itself — how it was done, what it measures, what it does not — write to us.

Test document with fictitious patient data, produced to evaluate the format of the report. It does not constitute a laboratory result or a medical act.

The whole report, to print