Atlas Protocol · Clinical Prevention

Atlas Adult-Onset Metabolic Module

27-gene panel for adult-onset inherited metabolic disorders.


A 27-gene panel for adult-onset inherited metabolic disorders — late-presenting lysosomal, mitochondrial, and metabolic conditions that often go undiagnosed for years.

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.

  • Liver
  • Brain
  • Heart
  • Muscle
WHAT THIS PANEL ANSWERS

What this panel answers.

Do you carry inherited variants for metabolic disorders that present in adulthood, including late-onset Pompe, Fabry, Gaucher, X-ALD, MLD, and alpha-1 antitrypsin deficiency?

WHAT CHANGES IF A FINDING IS IDENTIFIED

What changes if something is found.

  1. Specific enzyme-replacement therapies exist for Pompe, Fabry, and Gaucher and prevent irreversible organ damage when started early.
  2. Alpha-1 antitrypsin deficiency informs lifestyle decisions (smoking, occupational exposure) and pulmonary surveillance.
  3. Family cascade testing is critical -- many of these conditions have effective treatments only when started before symptoms develop.
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.

PRV12

Adult-Onset Inborn Errors of Metabolism

27 genes

A 27-gene panel for inherited metabolic disorders that can first present in adulthood. Many of these conditions are typically associated with childhood disease but have late-onset forms that go undiagnosed for years -- adult-onset Pompe, Fabry, Gaucher, X-linked adrenoleukodystrophy.

Clinical areas covered
  • Wilson disease, late-onset Pompe, Fabry, Gaucher
  • Adrenoleukodystrophy (X-ALD), metachromatic leukodystrophy
  • Biotinidase deficiency, alpha-1 antitrypsin deficiency, OTC deficiency
Analyzed genes -- 27 genes
  • ABCD1
  • ACADVL
  • ARSA
  • ATP7B
  • BTD
  • COQ2
  • CPT2
  • CYP27A1
  • DLAT
  • ETFA
  • ETFB
  • ETFDH
  • GAA
  • GALC
  • GBA1
  • GLA
  • HGD
  • IDUA
  • MMACHC
  • NPC1
  • OTC
  • PAH
  • PCCA
  • PCCB
  • SERPINA1
  • TH
  • TTPA

Gene list per CeGaT PRV12 (2026-05).

WHY THIS MATTERS

Why early knowledge matters.

  • PRV12

    Adult-Onset Inborn Errors of Metabolism

    Several of these disorders have specific enzyme-replacement or substrate-reduction therapies (Pompe, Fabry, Gaucher, MPS-I). Late diagnosis often means irreversible organ damage that earlier treatment could have prevented. Alpha-1 antitrypsin deficiency, for instance, accelerates emphysema and liver disease and is heavily underdiagnosed.

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.

Module-specific implications
  • PRV12

    Adult-Onset Inborn Errors of Metabolism

    • Many findings have specialized treatment pathways -- referral to a metabolic-medicine specialist is the typical next step.
    • Some genes (ATP7B, GAA, GLA, GBA1) overlap with the Iron & Copper and Eye-Manifestations modules; reports flag the overlap.
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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