Atlas Protocol · Clinical Prevention

Atlas Eye Diseases Module

5-gene panel for hereditary eye conditions including retinal dystrophies.


A 5-gene panel for hereditary eye conditions including retinal dystrophies and selected optic neuropathies.

GenDG §10

This is a predictive genetic test.

The order page will ask you to either book counseling or waive counseling in writing per German GenDG §10. Your choice is fully documented and accessible at any time.

HOW IT WORKS

How it works.

  1. 01

    Easy at-home test

    Order in three clicks, no login. Kit ships from Berlin within 5 working days.

  2. 02

    Get your report and personalized action plan

    Follow the guided sample collection. Your AI-interpreted clinical report arrives by secure email.

  3. 03

    Consult with professionals and retest

    Discuss findings with your physician or our medical geneticist; retest as your interventions evolve.

WHICH PART OF YOUR BODY

Which part of your body.

  • Eyes (manifestation of systemic storage disease)
WHAT THIS PANEL ANSWERS

What this panel answers.

Do you carry inherited variants for a focused set of systemic lysosomal or metabolic storage diseases that can present with eye findings?

WHAT CHANGES IF A FINDING IS IDENTIFIED

What changes if something is found.

Atlas medical/product review pending.

  1. Several of these conditions (Fabry, Gaucher, MPS-I) have specific enzyme-replacement therapies that work best when started before irreversible organ damage.
  2. Eye findings are often an early visible sign of an underlying systemic disease and prompt a broader work-up.
  3. Atlas medical review is pending -- this is not a comprehensive hereditary-ophthalmology panel; the five genes cover systemic storage disease with ocular manifestations, not retinal dystrophies or optic neuropathies.
Pathway references
  • GenDG §7
GENES ANALYZED

What is analyzed.

Atlas analyzes each gene in its entirety -- not just hotspot regions -- against current clinical literature. Findings are reviewed by a board-certified medical geneticist before release.

Atlas medical/product review pending.The CeGaT PRV06 module covers eye manifestations of systemic lysosomal storage disease (Krabbe, Gaucher, Fabry, alkaptonuria, MPS-I) and is not a comprehensive hereditary-eye panel. The Atlas Eye Diseases Module short copy describes "retinal dystrophies and selected optic neuropathies" -- those conditions are not covered by the five genes shown here. Confirm Atlas panel composition with medical/product before describing scope publicly.

PRV06

Eye Manifestations of Storage Diseases

5 genes

Atlas medical/product review pending.

A 5-gene set covering systemic lysosomal and metabolic storage disorders that present with eye findings (corneal clouding, cherry-red spot, ocular discoloration). This is not a comprehensive hereditary-eye-disease panel -- it covers a focused subset of systemic conditions where the eye is one of several affected organs.

Clinical areas covered
  • Lysosomal and metabolic storage diseases with ocular manifestations -- Krabbe, Gaucher, Fabry, alkaptonuria, MPS-I
Analyzed genes -- 5 genes
  • GALC
  • GBA1
  • GLA
  • HGD
  • IDUA

Gene list per CeGaT PRV06 (2026-05).

WHY THIS MATTERS

Why early knowledge matters.

  • PRV06

    Eye Manifestations of Storage Diseases

    Several of these conditions have enzyme-replacement therapies (Fabry, Gaucher, MPS-I) that work best when started before irreversible organ damage. Eye findings are often an early visible sign of an underlying systemic disease.

RESULT INTERPRETATION

How findings are reported.

Every Atlas predictive report uses the same five-outcome framework so you and your physician can read it the same way each time.

  1. 01

    Pathogenic variant

    Increased disease risk. The report includes an individualized prevention plan and a recommendation to discuss next steps with a physician or medical geneticist.

  2. 02

    Likely pathogenic variant

    Probable disease association. Preventive monitoring is typically justified; the strength of evidence is documented in the report.

  3. 03

    Variant of uncertain significance (VUS)

    Reported but not currently actionable. A VUS may be reclassified over time as new evidence accumulates -- Atlas does not act on VUS findings without specialist review.

  4. 04

    No relevant variant in this panel

    No pathogenic or likely-pathogenic variant was identified in the analyzed genes. This does not eliminate all genetic risk -- only the genes in this panel were assessed.

  5. 05

    Family implications

    When an actionable variant is found, cascade testing of first-degree relatives is typically recommended -- a decision made together with a counselor.

Counseling and cascade testing

Predictive genetic testing in Germany requires consultation with a physician qualified in human genetics under §7 of the GenDG (Arztvorbehalt). Atlas Counseling provides this before and after the test. When an actionable finding has implications for relatives, your counselor will discuss cascade testing -- not Atlas alone.

CLINICAL LIMITATIONS

What this test does not do.

  • Not a diagnosis of active disease

    A variant indicates predisposition. It does not confirm a condition is currently present.

  • Does not replace screening or routine care

    Imaging, lab work, and physical examination remain part of clinical care. Atlas results inform them; they do not substitute for them.

  • Not all risk is genetic

    Environment, behavior, age, and chance contribute to most common conditions. A genetic test reads one input.

  • A negative result does not eliminate risk

    Only the genes on the panel were analyzed. Variants in other genes, in non-coding regions, and outside the assay's technical scope are not assessed.

  • Clinical decisions remain with your physician

    Atlas reports are designed to be reviewed with a physician or medical geneticist. We do not recommend acting on a finding without that conversation.

GenDG §7

Predictive panels on this page are GenDG §7 Arztvorbehalt: counseling with a qualified human-genetics physician is required before and after the test. Atlas Counseling is included in the order flow.


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