Atlas Protocol · Clinical Prevention

Atlas Disease Prevention Complete

The full preventive panel: 12 modules in one report (the hereditary cancer gene set, nine single-disease modules, ACMG Core and pharmacogenetics).

Atlas Disease Prevention Complete combines 12 modules in one report: the hereditary cancer gene set (the same 54 genes as Atlas Hereditary Cancer Comprehensive), nine single-disease modules (cardiovascular, thrombosis and coagulation, iron and copper storage, hypercholesterolemia, eye manifestations of storage diseases, malignant hyperthermia, familial diabetes, adult-onset metabolic, kidney), ACMG Core (81 genes) and pharmacogenetics (21 genes). Not included: Hair Resilience, carrier screening, fertility and the predictive dementia and Parkinson panels.

WHAT THIS TEST ANSWERS

Questions this protocol answers.

  • What is my full preventive genetic risk profile?
  • Which conditions should I screen for proactively?
  • How should my doctor adapt my drug prescriptions?
View all included modules
  • Hereditary Cancer (54 genes, the same as Atlas Hereditary Cancer Comprehensive)
  • Cardiovascular Module (56 genes)
  • Thrombosis & Coagulation Module (28 genes)
  • Iron & Copper Storage Module (8 genes)
  • Hypercholesterolemia Module (4 genes)
  • Eye Diseases Module (5 genes)
  • Malignant Hyperthermia Module (2 genes)
  • Familial Diabetes Module (8 genes)
  • Adult-Onset Metabolic Module (27 genes)
  • Kidney Diseases Module (2 genes)
  • ACMG Core (81 genes)
  • Pharmacogenetics (21 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.

Hereditary Cancer (Complete Gene Set)

  • Breasts
  • Ovaries
  • Colon
  • Stomach
  • Pancreas
  • Prostate
  • Skin
  • Thyroid
  • Endocrine glands

Cardiovascular Diseases

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

Thrombosis & Coagulation Disorders

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

Iron & Copper Storage Disorders

  • Liver
  • Brain
  • Heart
  • Joints
  • Pancreas

Hypercholesterolemia

  • Arteries
  • Heart

Eye Manifestations of Storage Diseases

  • Eyes (manifestation of systemic storage disease)

Malignant Hyperthermia Susceptibility

  • Skeletal muscle (under anesthesia)

Pharmacogenetics

Drug categories
  • Pain medication
  • Blood thinners
  • Cardiovascular drugs
  • Antidepressants
  • Chemotherapy
  • Immunosuppressants

Familial Diabetes

  • Pancreas
  • Metabolism

Adult-Onset Inborn Errors of Metabolism

  • Liver
  • Brain
  • Heart
  • Muscle

Kidney Diseases

  • Kidneys

ACMG Secondary Findings v3.2 (Actionable Core)

  • Heart
  • Breasts
  • Colon
  • Liver
  • Kidneys
  • Brain
  • Muscle
WHAT THIS PANEL ANSWERS

What this panel answers.

Hereditary Cancer (Complete Gene Set)

Do you carry inherited variants that raise your risk for breast, ovarian, colon, stomach, pancreatic, prostate, skin, thyroid, or endocrine tumors?

Cardiovascular Diseases

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

Thrombosis & Coagulation Disorders

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

Iron & Copper Storage Disorders

Do you carry inherited variants that cause your body to store too much iron or copper, damaging organs over time?

Hypercholesterolemia

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

Eye Manifestations of Storage Diseases

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

Malignant Hyperthermia Susceptibility

Do you carry inherited variants that cause a dangerous reaction to common anesthetic drugs?

Pharmacogenetics

How does your body metabolize the drugs your doctor might prescribe you, now or in the future?

Familial Diabetes

Do you carry an inherited variant that causes a specific genetic form of diabetes often misdiagnosed as type 1 or type 2?

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?

Kidney Diseases

Do you carry inherited variants that cause autosomal-dominant polycystic kidney disease?

ACMG Secondary Findings v3.2 (Actionable Core)

Across every gene where international medical consensus says a finding leads to documented medical action, do you carry anything actionable?

WHAT CHANGES IF A FINDING IS IDENTIFIED

What changes if something is found.

Hereditary Cancer (Complete Gene Set)

  1. BRCA1 and BRCA2 carriers in Germany may be eligible for the GC-HBOC intensified surveillance program at 17 university centers including Charité Berlin, with annual breast MRI typically starting at age 25 to 30 and covered by GKV.
  2. Lynch-syndrome carriers receive enhanced colorectal screening earlier than the population baseline, typically with annual colonoscopy starting around age 25.
  3. A pathogenic finding informs cascade testing for first-degree relatives, coordinated by a human-genetics specialist.
  4. Surgical prevention options exist for some carriers; these are discussed with a human-genetics specialist and a relevant surgical or oncology team, never decided based on a test alone.
  5. A negative result does not eliminate cancer risk and does not replace routine screening.
Pathway references
  • GC-HBOC
  • GKV
  • GenDG §7

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

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

Iron & Copper Storage Disorders

  1. HFE-hemochromatosis carriers receive regular ferritin and transferrin-saturation monitoring. If iron overload develops, therapeutic phlebotomy is the standard treatment and prevents irreversible liver cirrhosis, diabetes, and cardiomyopathy.
  2. Wilson-disease carriers (ATP7B) require specialist hepatology and neurology care. Chelation and zinc therapy prevent progressive liver and neurological damage.
  3. Both conditions are highly treatable when caught early and progressive when missed.
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

Eye Manifestations of Storage Diseases

  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. 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

Malignant Hyperthermia Susceptibility

  1. Carriers must inform every anesthesiology team before any planned surgery, including elective procedures, dental surgery under general anesthesia, and caesarean section.
  2. Safe alternative anesthetic agents exist and are routine.
  3. Without disclosure, exposure to volatile anesthetics or succinylcholine can trigger a life-threatening hyperthermic crisis. With disclosure, surgery is routine and safe.
  4. Family cascade testing is straightforward and relevant for any relative who may have surgery.
Pathway references
  • GenDG §7

Pharmacogenetics

  1. Warfarin dosing (VKORC1, CYP2C9): the correct starting dose prevents bleeding and clotting complications.
  2. Clopidogrel response (CYP2C19): identifies poor metabolizers for whom alternative antiplatelet agents work better after a heart event or stent.
  3. Codeine and tramadol (CYP2D6): identifies ultra-rapid metabolizers at risk of overdose and poor metabolizers for whom the drug does not work.
  4. Capecitabine and 5-FU chemotherapy (DPYD): identifies patients who require dose reduction to prevent severe toxicity.
  5. Antidepressant selection (CYP2D6, CYP2C19): informs SSRI and tricyclic-antidepressant choice and dose.
Pathway references
  • CPIC
  • DPWG

Familial Diabetes

  1. MODY-HNF1A responds well to oral sulfonylureas and often does not require insulin.
  2. MODY-GCK is a stable, mild hyperglycemia that requires no treatment in most cases.
  3. A correct molecular diagnosis avoids unnecessary insulin therapy and informs family screening.
  4. The diagnosis often changes pregnancy management and reproductive planning.
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

Kidney Diseases

  1. Annual kidney-function monitoring is established practice -- eGFR, blood pressure, and abdominal ultrasound or MRI on a defined cadence.
  2. Tolvaptan can slow progression in selected patients and is prescribed by a nephrologist.
  3. Reproductive planning and family cascade testing are part of the standard follow-up.
  4. Without intervention, ADPKD typically progresses to end-stage kidney disease by the 50s or 60s; with active management, progression is significantly slowed.
Pathway references
  • GenDG §7

ACMG Secondary Findings v3.2 (Actionable Core)

  1. If a finding is identified, follow-up is established medical practice -- this is the international guideline-grade baseline.
  2. Cancer findings (BRCA1/2, Lynch, TP53) route to oncology surveillance and may qualify for the GC-HBOC program where applicable.
  3. Cardiac findings (channelopathies, cardiomyopathies, aortopathies) route to cardiology surveillance and, when indicated, electrophysiology evaluation.
  4. Metabolic findings (Wilson, Pompe, Fabry, OTC, biotinidase) route to specialist-led therapy planning.
  5. Cascade testing of first-degree relatives is part of the ACMG framework when an actionable variant is identified.
Pathway references
  • ACMG SF v3.2
  • GC-HBOC
  • GenDG §7
  • GKV
GENES ANALYZED

What is analyzed.

Atlas Disease Prevention Complete combines the hereditary cancer gene set (the same 54 genes as Atlas Hereditary Cancer Comprehensive), nine single-disease modules, ACMG Core and pharmacogenetics (12 modules) in one panel. Modules are listed below in full. A deduplicated total gene count is not claimed -- several genes overlap across modules (e.g. ATP7B in Iron & Copper Storage and in Adult-Onset Metabolic; BRCA1/2 in the hereditary cancer set and ACMG Core).

Modules included in this panel

Hereditary Cancer (Complete Gene Set)

54 genes

A 54-gene panel covering the high- and moderate-penetrance genes most commonly implicated in hereditary cancer syndromes -- breast/ovarian (BRCA1, BRCA2, PALB2), Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM), Li-Fraumeni (TP53), familial adenomatous polyposis (APC), MEN syndromes, and several rarer tumor-predisposition syndromes.

Clinical areas covered
  • Digestive-tract cancers (colon, stomach, pancreatic)
  • Breast and ovarian cancer
  • Skin cancer (melanoma, basal-cell predisposition syndromes)
  • Thyroid and other endocrine tumors
  • Prostate cancer
Analyzed genes -- 54 genes
  • APC
  • ATM
  • AXIN2
  • BAP1
  • BARD1
  • BMPR1A
  • BRCA1
  • BRCA2
  • BRIP1
  • CDC73
  • CDH1
  • CDKN2A
  • CHEK2
  • DICER1
  • EPCAM
  • FH
  • FLCN
  • KIT
  • MAX
  • MEN1
  • MET
  • MLH1
  • MSH2
  • MSH6
  • MUTYH
  • NBN
  • NF1
  • NF2
  • PALB2
  • PDGFRA
  • PMS2
  • POLD1
  • POLE
  • PTCH1
  • PTEN
  • RAD51C
  • RAD51D
  • RB1
  • RET
  • SDHA
  • SDHAF2
  • SDHB
  • SDHC
  • SDHD
  • SMAD4
  • SMARCA4
  • SMARCB1
  • STK11
  • TMEM127
  • TP53
  • TSC1
  • TSC2
  • VHL
  • WT1

Gene list version 2026-05.

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.

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.

Iron & Copper Storage Disorders

8 genes

An 8-gene panel for inherited iron- and copper-overload disorders. The most common indication is HFE-associated hemochromatosis; the panel also covers ATP7B (Wilson disease) and rarer iron-handling genes.

Clinical areas covered
  • Hereditary hemochromatosis (HFE-related and rare subtypes)
  • Wilson disease (ATP7B)
  • Aceruloplasminemia
Analyzed genes -- 8 genes
  • ATP7B
  • CP
  • GLRX5
  • HAMP
  • HFE
  • HJV
  • SLC40A1
  • TFR2

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.

Eye Manifestations of Storage Diseases

5 genes

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 version 2026-05.

Malignant Hyperthermia Susceptibility

2 genes

A 2-gene panel for malignant hyperthermia susceptibility. Variants in RYR1 or CACNA1S predispose to a rare but life-threatening hypermetabolic reaction triggered by volatile anesthetics (halothane, isoflurane, sevoflurane, desflurane) and the muscle relaxant succinylcholine.

Clinical areas covered
  • Anesthesia-triggered malignant hyperthermia -- volatile agents and succinylcholine
Analyzed genes -- 2 genes
  • CACNA1S
  • RYR1

Gene list version 2026-05.

Pharmacogenetics

21 genes

A CPIC- and DPWG-aligned pharmacogenetics panel covering the genes that most often change how a body activates, clears, or reacts to common medications. Used by physicians to choose drug and dose before prescribing, particularly for cardiology, oncology, psychiatry, and pain management.

Clinical areas covered
  • Warfarin dosing (VKORC1, CYP2C9)
  • Clopidogrel response (CYP2C19)
  • Codeine and tramadol metabolism (CYP2D6)
  • 5-FU and capecitabine toxicity (DPYD)
  • Thiopurine dosing (TPMT, NUDT15)
  • HLA-mediated drug hypersensitivity (HLA-B*57:01 abacavir, HLA-B*15:02 carbamazepine)
  • Statin myopathy risk (SLCO1B1)
  • Irinotecan toxicity (UGT1A1)
Analyzed genes -- 21 genes
  • ABCG2
  • CACNA1S
  • CYP2B6
  • CYP2C19
  • CYP2C9
  • CYP2D6
  • CYP3A4
  • CYP3A5
  • CYP4F2
  • DPYD
  • G6PD
  • HLA-A
  • HLA-B
  • IFNL4
  • MT-RNR1
  • NUDT15
  • RYR1
  • SLCO1B1
  • TPMT
  • UGT1A1
  • VKORC1
Limitations
  • Pharmacogenetic results are clinical-grade in interpretation but do not constitute a standalone diagnostic.

Gene list version 2026-05.

Familial Diabetes

8 genes

An 8-gene panel for monogenic forms of diabetes. MODY is frequently misdiagnosed as Type 1 or Type 2 diabetes -- the correct molecular diagnosis can change treatment substantially. MODY-HNF1A responds to oral sulfonylureas (often replacing insulin), MODY-GCK typically requires no treatment, and HNF1B carries kidney as well as pancreatic features.

Clinical areas covered
  • MODY (Maturity-Onset Diabetes of the Young), subtypes 1-6+
  • Neonatal diabetes (selected genes)
Analyzed genes -- 8 genes
  • ABCC8
  • GCK
  • HNF1A
  • HNF1B
  • HNF4A
  • INS
  • KCNJ11
  • PDX1

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.

Kidney Diseases

2 genes

A focused 2-gene panel for autosomal dominant polycystic kidney disease (ADPKD) -- the most common inherited kidney disease. PKD1 variants typically present earlier and progress faster than PKD2.

Clinical areas covered
  • Autosomal dominant polycystic kidney disease (ADPKD)
Analyzed genes -- 2 genes
  • PKD1
  • PKD2

Gene list version 2026-05.

ACMG Secondary Findings v3.2 (Actionable Core)

81 genes

The American College of Medical Genetics and Genomics (ACMG) curates a list of genes -- updated through version 3.2 -- where a pre-symptomatic finding provides clear, evidence-based medical action. This 81-gene panel implements that list in full.

Clinical areas covered
  • Hereditary cancer syndromes
  • Cardiac channelopathies and cardiomyopathies
  • Aortopathies and connective-tissue disorders
  • Malignant hyperthermia susceptibility
  • Familial hypercholesterolemia
  • Wilson disease, Pompe, Fabry, biotinidase, OTC deficiency
Analyzed genes -- 81 genes
  • ACTA2
  • ACTC1
  • ACVRL1
  • APC
  • APOB
  • ATP7B
  • BAG3
  • BMPR1A
  • BRCA1
  • BRCA2
  • BTD
  • CACNA1S
  • CALM1
  • CALM2
  • CALM3
  • CASQ2
  • COL3A1
  • DES
  • DSC2
  • DSG2
  • DSP
  • ENG
  • FBN1
  • FLNC
  • GAA
  • GLA
  • HFE
  • HNF1A
  • KCNH2
  • KCNQ1
  • LDLR
  • LMNA
  • MAX
  • MEN1
  • MLH1
  • MSH2
  • MSH6
  • MUTYH
  • MYBPC3
  • MYH11
  • MYH7
  • MYL2
  • MYL3
  • NF2
  • OTC
  • PALB2
  • PCSK9
  • PKP2
  • PMS2
  • PRKAG2
  • PTEN
  • RB1
  • RBM20
  • RET
  • RPE65
  • RYR1
  • RYR2
  • SCN5A
  • SDHAF2
  • SDHB
  • SDHC
  • SDHD
  • SMAD3
  • SMAD4
  • STK11
  • TGFBR1
  • TGFBR2
  • TMEM127
  • TMEM43
  • TNNC1
  • TNNI3
  • TNNT2
  • TP53
  • TPM1
  • TRDN
  • TSC1
  • TSC2
  • TTN
  • TTR
  • VHL
  • WT1

Gene list version 2026-05 (ACMG SF v3.2). The ACMG list is reviewed and updated by the College; Atlas tracks the current version.

WHY THIS MATTERS

Why early knowledge matters.

  • Hereditary Cancer (Complete Gene Set)

    Cancers detected at a local stage have five-year survival rates of 87% to 100% across most indications; survival drops sharply once a tumor has spread. Identifying a hereditary predisposition before symptoms appear lets a physician schedule risk-appropriate screening (often earlier and more frequent than the population baseline) and discuss preventive options with you.

  • 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.

  • 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.

  • Iron & Copper Storage Disorders

    Untreated hemochromatosis silently deposits iron in the liver, pancreas, and heart -- leading to cirrhosis, diabetes, and cardiomyopathy. Untreated Wilson disease causes progressive liver and neurological damage. Both are highly treatable when detected before organ damage: scheduled phlebotomy normalizes iron stores, and chelation plus zinc therapy controls copper.

  • 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.

  • 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.

  • Malignant Hyperthermia Susceptibility

    Pre-surgical knowledge of carrier status lets an anesthesiologist choose safe agents in advance. The finding is particularly relevant for elective surgery and for family planning around procedures like Caesarean delivery, where general anesthesia may be required at short notice.

  • Pharmacogenetics

    Roughly 99% of people carry at least one actionable pharmacogenetic variant. Knowing yours can prevent a non-response, an avoidable side effect, or a serious hypersensitivity reaction -- and it carries forward across every prescription you may receive over a lifetime.

  • Familial Diabetes

    Familial diabetes can develop quietly over years before symptoms appear. A correct genetic diagnosis can replace inappropriate insulin therapy with an oral agent (or no treatment), inform family screening, and guide pregnancy care.

  • 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.

  • Kidney Diseases

    Kidney disease is often discovered only when function is already impaired. ADPKD now has a disease-modifying therapy -- tolvaptan -- that can slow progression in selected patients. Early genetic diagnosis enables a nephrologist to begin imaging surveillance and consider therapy at the right time.

  • ACMG Secondary Findings v3.2 (Actionable Core)

    ACMG SF v3.2 is the international reference for "actionable" predictive genetic findings. Each gene on the list has a documented intervention -- screening, surveillance, medication, or surgery -- that meaningfully changes outcomes when the variant is identified before disease appears.

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

  • Hereditary Cancer (Complete Gene Set)

    • A pathogenic finding informs a personalized screening schedule -- typically discussed with an oncologist or human geneticist.
    • Lynch-syndrome genes (MLH1, MSH2, MSH6, PMS2) also raise colorectal, endometrial, gastric, and urinary-tract cancer risk -- not only breast/ovarian.
    • First-degree relatives may benefit from cascade testing for an identified variant -- a decision made together with a counselor.

  • 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.

  • 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.

  • Iron & Copper Storage Disorders

    • Hemochromatosis findings inform ferritin and transferrin-saturation monitoring, and a phlebotomy schedule when iron stores climb.
    • Wilson disease findings are typically followed up with serum ceruloplasmin, 24-hour urinary copper, and an ophthalmology slit-lamp exam -- coordinated by a physician.

  • 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.

  • Malignant Hyperthermia Susceptibility

    • A positive finding is documented in your medical record and shared with any anesthesiology team ahead of a planned procedure.
    • First-degree relatives may benefit from cascade testing -- the trait is autosomal dominant.

  • Familial Diabetes

    • A MODY finding is typically reviewed with an endocrinologist to revisit current treatment.
    • Cascade testing is informative -- MODY is autosomal dominant, so each first-degree relative has a 50% chance of carrying the same variant.

  • 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.

  • Kidney Diseases

    • A confirmed finding is typically followed by renal imaging (ultrasound or MR) and a nephrology consult to evaluate eligibility for tolvaptan.
    • Cascade testing is informative -- ADPKD is autosomal dominant.

  • ACMG Secondary Findings v3.2 (Actionable Core)

    • Findings span cancer, cardiac, metabolic, and connective-tissue domains -- the appropriate specialist follow-up depends on which gene.
    • Cascade testing of first-degree relatives is part of the standard ACMG framework.
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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