5-gene panel for systemic storage diseases that can show in the eye.
A 5-gene panel (GALC, GBA1, GLA, HGD, IDUA) for systemic lysosomal and metabolic storage diseases that can present with eye findings, such as Fabry, Gaucher, Krabbe, alkaptonuria and MPS I. It is not a comprehensive hereditary eye-disease panel and does not cover retinal dystrophies or optic neuropathies.
Bookable, after medical review.
Before the analysis, a specialist in human genetics reviews your preparation questionnaire and informs you (GenDG). If the test is declined, Atlas refunds the full amount.
You pay Atlas for Atlas Baseline and the analysis.
You receive a questionnaire by email from the physician's practice, and a specialist in human genetics reviews it. If the test is declined, you get a full automatic refund.
You choose a counselling slot or join the waitlist.
After the counselling you give your consent, then we ship your collection kit. The physician discusses the result with you.
Do you carry inherited variants for a focused set of systemic lysosomal or metabolic storage diseases that can present with eye findings?
Atlas analyzes each gene in its entirety -- not just hotspot regions -- against current clinical literature. Findings are assessed by a specialist in human genetics before release.
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.
Gene list version 2026-05.
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.
Every Atlas predictive report uses the same five-outcome framework so you and your physician can read it the same way each time.
Increased disease risk. The report includes an individualized prevention plan and a recommendation to discuss next steps with a physician or medical geneticist.
Probable disease association. Preventive monitoring is typically justified; the strength of evidence is documented in the report.
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.
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.
When an actionable variant is found, cascade testing of first-degree relatives is typically recommended -- a decision made together with a counselor.
Predictive genetic testing in Germany requires consultation with a physician qualified in human genetics under §7 of the GenDG (Arztvorbehalt). This counseling, before and after the test, is given by a specialist in human genetics. When an actionable finding has implications for relatives, this physician discusses cascade testing with you, not Atlas alone.
A variant indicates predisposition. It does not confirm a condition is currently present.
Imaging, lab work, and physical examination remain part of clinical care. Atlas results inform them; they do not substitute for them.
Environment, behavior, age, and chance contribute to most common conditions. A genetic test reads one input.
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.
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. This counseling is given by a specialist in human genetics.
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