Atlas Protocol · Clinical Prevention

Atlas Cardio-Metabolic Risk

Bundle: cardiovascular, hypercholesterolemia, thrombosis, and metabolic modules.

A curated cardiometabolic bundle covering inherited cardiovascular disease, familial hypercholesterolemia, thrombosis & coagulation, and adult-onset metabolic conditions.

WHAT THIS TEST ANSWERS

Questions this protocol answers.

  • Do I carry a familial hypercholesterolemia variant?
  • Am I at elevated thrombosis risk?
  • Which cardiovascular conditions run in my genome?
View all included modules
  • Cardiovascular Module (56 genes)
  • Hypercholesterolemia Module (4 genes)
  • Thrombosis & Coagulation Module (28 genes)
  • Adult-Onset Metabolic Module (27 genes)
GenDG §10

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.

HOW IT WORKS

How it works.

  1. 01

    Pay

    You pay Atlas for Atlas Baseline and the analysis.

  2. 02

    Questionnaire and physician review

    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.

  3. 03

    Counselling slot

    You choose a counselling slot or join the waitlist.

  4. 04

    Consent, kit and result

    After the counselling you give your consent, then we ship your collection kit. The physician discusses the result with you.

WHICH PART OF YOUR BODY

Which part of your body.

Cardiovascular Diseases

  • Heart muscle
  • Heart rhythm
  • Aorta
  • Blood vessels
  • Lungs

Hypercholesterolemia

  • Arteries
  • Heart

Thrombosis & Coagulation Disorders

  • Blood clotting
  • Lungs (pulmonary embolism)
  • Legs (deep vein thrombosis)
  • Brain (stroke)

Adult-Onset Inborn Errors of Metabolism

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

What this panel answers.

Cardiovascular Diseases

Do you carry inherited variants that raise your risk for cardiomyopathies, dangerous heart-rhythm conditions, or aortic disease?

Hypercholesterolemia

Do you carry inherited variants that cause your body to handle cholesterol abnormally from birth, leading to early heart disease?

Thrombosis & Coagulation Disorders

Do you carry inherited variants that raise your risk of forming dangerous blood clots?

Adult-Onset Inborn Errors of Metabolism

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.

Cardiovascular Diseases

  1. Carriers are referred for structured cardiology surveillance: echocardiogram and cardiac MRI on a defined cadence, plus Holter monitoring when a rhythm disorder is suspected.
  2. For specific high-risk channelopathy variants, an electrophysiologist evaluates whether an implantable cardioverter defibrillator (ICD) is indicated.
  3. Family cascade testing identifies relatives who may also benefit from surveillance.
  4. Lifestyle and competitive-sport recommendations are individualized per variant by the treating cardiologist.
Pathway references
  • GenDG §7

Hypercholesterolemia

  1. Familial hypercholesterolemia (FH) affects roughly one in 250 people and is heavily underdiagnosed.
  2. Untreated FH carries an approximately 20-fold increased lifetime risk of premature coronary heart disease.
  3. Statin therapy started in young adulthood normalizes lifetime cardiovascular risk close to the population baseline.
  4. Family cascade testing typically finds additional affected relatives in the same generation and the prior generation.
Pathway references
  • GenDG §7

Thrombosis & Coagulation Disorders

  1. Factor V Leiden, prothrombin, protein C and S deficiency, and antithrombin deficiency carriers receive concrete travel and surgical precautions -- compression stockings on long-haul flights, prophylactic anticoagulation around major surgery, hospitalization, and pregnancy.
  2. Hormonal contraception and hormone-replacement decisions are individualized with your physician.
  3. Family cascade testing identifies relatives at the same risk.
Pathway references
  • GenDG §7

Adult-Onset Inborn Errors of Metabolism

  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 Cardio-Metabolic Risk bundles four modules that together cover inherited cardiovascular disease, familial hypercholesterolemia, thrombosis and coagulation, and adult-onset metabolic conditions. Each module is shown in full below.

Modules included in this panel

Cardiovascular Diseases

56 genes

A 56-gene panel for inherited heart and vascular disease. Covers the major cardiomyopathy genes, the channelopathy genes that predispose to sudden cardiac arrest, and the connective-tissue genes that drive aortic-aneurysm syndromes such as Marfan and Loeys-Dietz.

Clinical areas covered
  • Cardiomyopathies -- hypertrophic, dilated, arrhythmogenic
  • Aortopathies -- Marfan, Loeys-Dietz, vascular Ehlers-Danlos
  • Channelopathies -- long QT, Brugada, CPVT
  • Familial pulmonary arterial hypertension
  • Hereditary hemorrhagic telangiectasia
Analyzed genes -- 56 genes
  • ACTA2
  • ACTC1
  • ACVRL1
  • ALPK3
  • BAG3
  • BMPR2
  • CALM1
  • CALM2
  • CALM3
  • CASQ2
  • CAV1
  • COL3A1
  • DES
  • DSC2
  • DSG2
  • DSP
  • EMD
  • ENG
  • FBN1
  • FHL1
  • FLNC
  • GDF2
  • KCNH2
  • KCNK3
  • KCNQ1
  • KDR
  • LAMP2
  • LMNA
  • LOX
  • MYBPC3
  • MYH11
  • MYH7
  • MYL2
  • MYL3
  • MYLK
  • PKP2
  • PLN
  • PRKAG2
  • RBM20
  • RYR2
  • SCN5A
  • SMAD3
  • SMAD9
  • TBX4
  • TECRL
  • TGFB2
  • TGFBR1
  • TGFBR2
  • TMEM43
  • TNNC1
  • TNNI3
  • TNNT2
  • TPM1
  • TRDN
  • TTN
  • TTR

Gene list version 2026-05.

Hypercholesterolemia

4 genes

A focused 4-gene panel for familial hypercholesterolemia (FH) -- the inherited form of high LDL cholesterol that affects roughly 1 in 250 people and is heavily underdiagnosed. Variants in LDLR, APOB, PCSK9, or LDLRAP1 disrupt the LDL receptor pathway, leaving LDL chronically elevated from birth.

Clinical areas covered
  • Familial hypercholesterolemia (FH) -- LDL receptor pathway
Analyzed genes -- 4 genes
  • APOB
  • LDLR
  • LDLRAP1
  • PCSK9

Gene list version 2026-05.

Thrombosis & Coagulation Disorders

28 genes

A 28-gene panel covering inherited clotting and bleeding disorders. Includes the common thrombophilia variants (Factor V Leiden in F5, prothrombin in F2), the protein C/S/antithrombin pathway, von Willebrand factor, and the hemophilia A/B factor genes.

Clinical areas covered
  • Factor V Leiden and prothrombin variants
  • Protein C / protein S deficiency
  • Antithrombin deficiency
  • Von Willebrand disease
  • Hemophilia A and B
  • Platelet-function disorders
Analyzed genes -- 28 genes
  • ADAMTS13
  • F10
  • F11
  • F12
  • F13A1
  • F13B
  • F2
  • F5
  • F7
  • F8
  • F9
  • GFI1B
  • GP1BA
  • GP1BB
  • GP6
  • GP9
  • HRG
  • ITGA2B
  • ITGB3
  • LMAN1
  • MCFD2
  • NBEAL2
  • PROC
  • PROS1
  • SERPINC1
  • SERPIND1
  • SERPINF2
  • VWF
Limitations
  • F8 intronic inversions are not detected by the standard short-read sequencing assay -- if hemophilia A is clinically suspected, an inversion-specific test is required.

Gene list version 2026-05.

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 version 2026-05.

WHY THIS MATTERS

Why early knowledge matters.

  • Cardiovascular Diseases

    Vascular disease can develop quietly over years, and inherited cardiac conditions are often discovered only after a serious event. An identified variant lets a cardiologist start surveillance (echocardiogram, ECG, MR imaging, aortic-root monitoring) before structural change appears, and informs decisions about exercise, anesthesia, and medications.

  • Hypercholesterolemia

    Untreated FH carries roughly a 20-fold lifetime risk of premature coronary heart disease. Identifying it allows a physician to begin statin therapy early -- often in adolescence or young adulthood -- which substantially normalizes lifetime cardiovascular risk. Lipid panels alone often miss FH because cholesterol elevation is interpreted as lifestyle-driven.

  • Thrombosis & Coagulation Disorders

    Inherited thrombophilia substantially raises the risk of deep-vein thrombosis, pulmonary embolism, and stroke -- particularly under hormonal contraception, pregnancy, surgery, immobilization, or long-haul travel. Knowing your status can change which contraceptive a physician prescribes and what perioperative prophylaxis is used.

  • 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

  • Cardiovascular Diseases

    • Channelopathy findings (KCNQ1, KCNH2, SCN5A, RYR2) can change which drugs are safe and inform exercise guidance.
    • Aortopathy findings (FBN1, TGFBR1/2, COL3A1) typically trigger imaging surveillance and, in some cases, early surgical planning.
    • Cardiomyopathy findings often warrant first-degree-relative screening -- the condition can be present without symptoms.

  • Hypercholesterolemia

    • A confirmed FH variant typically prompts earlier and more aggressive lipid-lowering therapy than population guidelines suggest.
    • Cascade testing of first-degree relatives is standard -- each parent, sibling, and child has a 50% chance of carrying the same variant.

  • Thrombosis & Coagulation Disorders

    • A confirmed thrombophilia variant is typically discussed with a hematologist or human geneticist -- not all carriers need anticoagulation, and decisions are context-specific.
    • Pregnancy, surgery, and hormonal therapy are common triggers where the finding changes management.
    • Bleeding-disorder findings (VWF, F8, F9) inform safe surgical, dental, and obstetric care.

  • 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). 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.

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. This counseling is given by a specialist in human genetics.

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