Atlas Cardio-Metabolic Risk bundles four CeGaT-derived modules that together cover inherited cardiovascular disease, familial hypercholesterolemia, thrombosis and coagulation, and adult-onset metabolic conditions. Each module is shown in full below.
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 genesShow all genes →Hide 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 per CeGaT PRV02 (2026-05).
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 genesShow all genes →Hide genes ↑
Gene list per CeGaT PRV05 (2026-05).
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 genesShow all genes →Hide 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 per CeGaT PRV03 (2026-05).
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 genesShow all genes →Hide 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).