Cardiovascular
Timely detection and diagnosis of heart disorders can lead to enhanced treatment options, help to prevent sudden cardiac death, and improve prognosis. Having identified genetic variants associated with cardiology diseases in over 300 different genes, we can support you in providing your patients with a precise diagnosis of a cardiovascular disease. Testing can also identify asymptomatic and at-risk family members, facilitating precautions or interventions to prevent illness or sudden death.
CentoCardio®
CentoCardio® includes the most relevant genes for arrhythmias, congenital heart disease, and cardiomyopathies. Syndromes included: Long and short QT, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, cardiomyopathies dilated and hypertrophic, and congenital heart defects. In addition, this panel includes vascular abnormalities, such as dolichoectasia and hereditary hemorragic telangiectasia. The panel does not include analysis of PKD1.
| No. of genes: | 327 |
|---|---|
| TAT: | 25 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCC9 | - | Hypertrichotic osteochondrodysplasia | AD |
| Intellectual disability and myopathy syndrome | AR | ||
| Cardiomyopathy, dilated, 1O | AD | ||
| ?Atrial fibrillation, familial, 12 | AD | ||
| ACTA1 | 102610 | Nemaline myopathy 3, autosomal dominant or recessive | AD, AR |
| ?Myopathy, scapulohumeroperoneal | AD | ||
| Myopathy, congenital, with fiber-type disproportion 1 | AD, AR | ||
| Myopathy, actin, congenital, with cores | AD, AR | ||
| Myopathy, actin, congenital, with excess of thin myofilaments | AD, AR | ||
| ACTA2 | 102620 | Aortic aneurysm, familial thoracic 6 | AD |
| Moyamoya disease 5 | - | ||
| Multisystemic smooth muscle dysfunction syndrome | AD | ||
| ACTC1 | 102540 | Atrial septal defect 5 | AD |
| Left ventricular noncompaction 4 | AD | ||
| Cardiomyopathy, hypertrophic, 11 | AD | ||
| Cardiomyopathy, dilated, 1R | AD | ||
| ACTN2 | 102573 | Cardiomyopathy, dilated, 1AA, with or without LVNC | AD |
| Myopathy, congenital with structured cores and Z-line abnormalities | AD | ||
| Cardiomyopathy, hypertrophic, 23, with or without LVNC | AD | ||
| Myopathy, distal, 6, adult onset | AD | ||
| ACVR2B | 602730 | Heterotaxy, visceral, 4, autosomal | - |
| ACVRL1 | 601284 | Telangiectasia, hereditary hemorrhagic, type 2 | AD |
| ADAMTS10 | 608990 | Weill-Marchesani syndrome 1, recessive | AR |
| ADAMTS19 | 607513 | Cardiac valvular dysplasia 2 | - |
| AGL | 610860 | Glycogen storage disease IIIb | AR |
| Glycogen storage disease IIIa | AR | ||
| AKAP9 | 604001 | ?Long QT syndrome 11 | AD |
| ALPK3 | 617608 | Cardiomyopathy, familial hypertrophic 27 | AR |
| ANK2 | 106410 | Long QT syndrome 4 | AD |
| Cardiac arrhythmia, ankyrin-B-related | AD | ||
| ANKS6 | 615370 | Nephronophthisis 16 | AR |
| ARHGAP31 | 610911 | Adams-Oliver syndrome 1 | AD |
| ATM | 607585 | Breast cancer, susceptibility to | AD, SM |
| Ataxia-telangiectasia | AR | ||
| B3GAT3 | 606374 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | AR |
| BAG3 | 603883 | Cardiomyopathy, dilated, 1HH | AD |
| Myopathy, myofibrillar, 6 | AD | ||
| BCOR | - | Microphthalmia, syndromic 2 | XLD |
| BMPR2 | 600799 | Pulmonary hypertension, familial primary, 1, with or without HHT | AD |
| Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated | AD | ||
| Pulmonary venoocclusive disease 1 | AD | ||
| BRAF | 164757 | Cardiofaciocutaneous syndrome | AD |
| Adenocarcinoma of lung, somatic | - | ||
| Noonan syndrome 7 | AD | ||
| Colorectal cancer, somatic | - | ||
| Melanoma, malignant, somatic, | - | ||
| LEOPARD syndrome 3 | AD | ||
| CACNA1C | 114205 | Long QT syndrome 8 | AD |
| Brugada syndrome 3 | - | ||
| Timothy syndrome | AD | ||
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | - | ||
| CACNA2D1 | 114204 | Developmental and epileptic encephalopathy 110 | - |
| CACNB2 | 600003 | Brugada syndrome 4 | - |
| CALM1 | 114180 | Long QT syndrome 14 | AD |
| Ventricular tachycardia, catecholaminergic polymorphic, 4 | AD | ||
| CALM2 | 114182 | Long QT syndrome 15 | AD |
| CALM3 | 114183 | ?Ventricular tachycardia, catecholaminergic polymorphic 6 | AD |
| Long QT syndrome 16 | AD | ||
| CASQ2 | 114251 | Ventricular tachycardia, catecholaminergic polymorphic, 2 | AR |
| CAV3 | 601253 | Rippling muscle disease 2 | AD |
| Cardiomyopathy, familial hypertrophic | AD, DD | ||
| Creatine phosphokinase, elevated serum | AD | ||
| Long QT syndrome 9 | AD | ||
| Myopathy, distal, Tateyama type | AD | ||
| CBL | 165360 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | AD |
| ?Juvenile myelomonocytic leukemia | AD, SM | ||
| CCDC103 | 614677 | Ciliary dyskinesia, primary, 17 | AR |
| CCDC39 | 613798 | Ciliary dyskinesia, primary, 14 | AR |
| CCDC40 | 613799 | Ciliary dyskinesia, primary, 15 | AR |
| CDH2 | 114020 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | AD |
| Arrhythmogenic right ventricular dysplasia, familial, 14 | AD | ||
| ?Attention deficit-hyperactivity disorder 8 | - | ||
| CFAP298 | 615494 | Ciliary dyskinesia, primary, 26 | AR |
| CFAP300 | 618058 | Ciliary dyskinesia, primary, 38 | AR |
| CFAP53 | 614759 | Heterotaxy, visceral, 6, autosomal recessive | AR |
| CHD7 | 608892 | CHARGE syndrome | AD |
| Hypogonadotropic hypogonadism 5 with or without anosmia | AD | ||
| CITED2 | 602937 | Atrial septal defect 8 | AD |
| Ventricular septal defect 2 | AD | ||
| CLDN16 | 603959 | Hypomagnesemia 3, renal | AR |
| CLDN19 | 610036 | Hypomagnesemia 5, renal, with ocular involvement | AR |
| CNNM2 | 607803 | Hypomagnesemia 6, renal | AD |
| Hypomagnesemia, seizures, and mental retardation | AD, AR | ||
| COL1A1 | 120150 | Ehlers-Danlos syndrome, arthrochalasia type, 1 | AD |
| Bone mineral density variation QTL, osteoporosis | AD | ||
| Osteogenesis imperfecta, type III | AD | ||
| Osteogenesis imperfecta, type I | AD | ||
| Caffey disease | AD | ||
| Osteogenesis imperfecta, type IV | AD | ||
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | AD | ||
| Osteogenesis imperfecta, type II | AD | ||
| COL1A2 | 120160 | Osteoporosis, postmenopausal | AD |
| Ehlers-Danlos syndrome, cardiac valvular type | AR | ||
| Ehlers-Danlos syndrome, arthrochalasia type, 2 | AD | ||
| Osteogenesis imperfecta, type III | AD | ||
| Osteogenesis imperfecta, type IV | AD | ||
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | AD | ||
| Osteogenesis imperfecta, type II | AD | ||
| COL3A1 | 120180 | Ehlers-Danlos syndrome, vascular type | AD |
| Polymicrogyria with or without vascular-type EDS | AR | ||
| COL4A1 | 120130 | ?Retinal arteries, tortuosity of | AD |
| Hemorrhage, intracerebral, susceptibility to | - | ||
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | AD | ||
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | AD | ||
| Brain small vessel disease with or without ocular anomalies | AD | ||
| COL4A2 | 120090 | Hemorrhage, intracerebral, susceptibility to | - |
| Brain small vessel disease 2 | AD | ||
| COL5A1 | 120215 | Fibromuscular dysplasia, multifocal | AD |
| Ehlers-Danlos syndrome, classic type, 1 | AD | ||
| COL5A2 | 120190 | Ehlers-Danlos syndrome, classic type, 2 | AD |
| COX15 | 603646 | Mitochondrial complex IV deficiency, nuclear type 6 | AR |
| CPT2 | 600650 | CPT II deficiency, myopathic, stress-induced | AD, AR |
| CPT II deficiency, infantile | AR | ||
| Encephalopathy, acute, infection-induced, 4, susceptibility to | AD, AR | ||
| CPT II deficiency, lethal neonatal | AR | ||
| CREBBP | 600140 | Menke-Hennekam syndrome 1 | AD |
| Rubinstein-Taybi syndrome 1 | AD | ||
| CRELD1 | 607170 | Atrioventricular septal defect, partial, with heterotaxy syndrome | AD |
| Atrioventricular septal defect, susceptibility to, 2 | AD | ||
| CRYAB | 123590 | Cataract 16, multiple types | AD, AR |
| Cardiomyopathy, dilated, 1II | AD | ||
| Myopathy, myofibrillar, 2 | AD | ||
| Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related | AR | ||
| CSRP3 | 600824 | ?Cardiomyopathy, dilated, 1M | - |
| Cardiomyopathy, hypertrophic, 12 | AD | ||
| CTNNA3 | 607667 | Arrhythmogenic right ventricular dysplasia, familial, 13 | AD |
| DES | 125660 | Cardiomyopathy, dilated, 1I | AD |
| Myopathy, myofibrillar, 1 | AD, AR | ||
| Scapuloperoneal syndrome, neurogenic, Kaeser type | AD | ||
| DLL4 | 605185 | Adams-Oliver syndrome 6 | AD |
| DMD | 300377 | Cardiomyopathy, dilated, 3B | XL |
| Duchenne muscular dystrophy | XLR | ||
| Becker muscular dystrophy | XLR | ||
| DNAAF1 | 613190 | Ciliary dyskinesia, primary, 13 | AR |
| DNAAF11 | 614930 | Ciliary dyskinesia, primary, 19 | AR |
| DNAAF2 | 612517 | Ciliary dyskinesia, primary, 10 | AR |
| DNAAF3 | 614566 | Ciliary dyskinesia, primary, 2 | AR |
| DNAAF4 | 608706 | Dyslexia, susceptibility to, 1 | AD |
| Ciliary dyskinesia, primary, 25 | AR | ||
| DNAAF5 | 614864 | Ciliary dyskinesia, primary, 18 | AR |
| DNAAF6 | 300933 | Ciliary dyskinesia, primary, 36, X-linked | XLR |
| DNAH11 | 603339 | Ciliary dyskinesia, primary, 7, with or without situs inversus | AR |
| DNAH5 | 603335 | Ciliary dyskinesia, primary, 3, with or without situs inversus | AR |
| DNAH9 | 603330 | Ciliary dyskinesia, primary, 40 | AR |
| DNAI1 | 604366 | Ciliary dyskinesia, primary, 1, with or without situs inversus | AR |
| DNAI2 | 605483 | Ciliary dyskinesia, primary, 9, with or without situs inversus | AR |
| DNAJC19 | 608977 | 3-methylglutaconic aciduria, type V | AR |
| DNAL1 | 610062 | Ciliary dyskinesia, primary, 16 | AR |
| DOLK | 610746 | Congenital disorder of glycosylation, type Im | AR |
| DPP6 | 126141 | Ventricular fibrillation, paroxysmal familial, 2 | AD |
| Mental retardation, autosomal dominant 33 | - | ||
| DSC2 | 125645 | Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair | AD, AR |
| Arrhythmogenic right ventricular dysplasia 11 | AD, AR | ||
| DSG2 | 125671 | Arrhythmogenic right ventricular dysplasia 10 | AD |
| Cardiomyopathy, dilated, 1BB | - | ||
| DSP | 125647 | Cardiomyopathy, dilated, with woolly hair and keratoderma | AR |
| Arrhythmogenic right ventricular dysplasia 8 | AD | ||
| Keratosis palmoplantaris striata II | AD | ||
| Skin fragility-woolly hair syndrome | AR | ||
| Epidermolysis bullosa, lethal acantholytic | AR | ||
| Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis | AD | ||
| DTNA | 601239 | Left ventricular noncompaction 1, with or without congenital heart defects | AD |
| EFEMP2 | 604633 | Cutis laxa, autosomal recessive, type IB | AR |
| EGF | 131530 | Hypomagnesemia 4, renal | AR |
| EHMT1 | 607001 | Kleefstra syndrome 1 | AD |
| ELAC2 | 605367 | Prostate cancer, hereditary, 2, susceptibility to | - |
| Combined oxidative phosphorylation deficiency 17 | AR | ||
| ELN | 130160 | Cutis laxa, autosomal dominant | AD |
| Supravalvar aortic stenosis | AD | ||
| EMD | 300384 | Emery-Dreifuss muscular dystrophy 1, X-linked | XLR |
| ENG | 131195 | Telangiectasia, hereditary hemorrhagic, type 1 | AD |
| EOGT | 614789 | Adams-Oliver syndrome 4 | AR |
| EP300 | 602700 | Rubinstein-Taybi syndrome 2 | AD |
| Colorectal cancer, somatic | - | ||
| Menke-Hennekam syndrome 2 | AD | ||
| EVC | 604831 | Ellis-van Creveld syndrome | AR |
| ?Weyers acrofacial dysostosis | AD | ||
| EVC2 | 607261 | Ellis-van Creveld syndrome | AR |
| Weyers acrofacial dysostosis | AD | ||
| EYA4 | 603550 | Deafness, autosomal dominant 10 | AD |
| ?Cardiomyopathy, dilated, 1J | AD | ||
| FBN1 | 134797 | Marfan lipodystrophy syndrome | AD |
| Geleophysic dysplasia 2 | AD | ||
| Acromicric dysplasia | AD | ||
| Marfan syndrome | AD | ||
| Weill-Marchesani syndrome 2, dominant | AD | ||
| Stiff skin syndrome | AD | ||
| MASS syndrome | AD | ||
| Ectopia lentis, familial | AD | ||
| FBN2 | 612570 | Contractural arachnodactyly, congenital | AD |
| Macular degeneration, early-onset | AD | ||
| FHL1 | 300163 | Reducing body myopathy, X-linked 1b, with late childhood or adult onset | XL |
| Scapuloperoneal myopathy, X-linked dominant | XLD | ||
| ?Uruguay faciocardiomusculoskeletal syndrome | XLR | ||
| Myopathy, X-linked, with postural muscle atrophy | XLR | ||
| Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset | XLD | ||
| Emery-Dreifuss muscular dystrophy 6, X-linked | XLR | ||
| FKRP | 606596 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 | AR | ||
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | AR | ||
| FKTN | 607440 | Cardiomyopathy, dilated, 1X | AR |
| Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 | AR | ||
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | AR | ||
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | AR | ||
| FLNA | 300017 | Frontometaphyseal dysplasia 1 | XLR |
| Heterotopia, periventricular, 1 | XLD | ||
| Terminal osseous dysplasia | XLD | ||
| Congenital short bowel syndrome | XLR | ||
| Otopalatodigital syndrome, type II | XLD | ||
| Melnick-Needles syndrome | XLD | ||
| Cardiac valvular dysplasia, X-linked | XL | ||
| Intestinal pseudoobstruction, neuronal | XLR | ||
| ?FG syndrome 2 | XL | ||
| Otopalatodigital syndrome, type I | XLD | ||
| FLNC | 102565 | Cardiomyopathy, familial restrictive 5 | AD |
| Myopathy, myofibrillar, 5 | AD | ||
| Myopathy, distal, 4 | AD | ||
| Cardiomyopathy, familial hypertrophic, 26 | AD | ||
| FOXC1 | 601090 | Anterior segment dysgenesis 3, multiple subtypes | AD |
| Axenfeld-Rieger syndrome, type 3 | AD | ||
| FOXF1 | 601089 | Alveolar capillary dysplasia with misalignment of pulmonary veins | AD |
| FOXJ1 | 602291 | Ciliary dyskinesia, primary, 43 | AD |
| FXYD2 | 601814 | Hypomagnesemia 2, renal | AD |
| GAA | 606800 | Glycogen storage disease II | AR |
| GAS8 | 605178 | Ciliary dyskinesia, primary, 33 | AR |
| GATA4 | 600576 | Atrioventricular septal defect 4 | AD |
| ?Testicular anomalies with or without congenital heart disease | AD | ||
| Ventricular septal defect 1 | AD | ||
| Tetralogy of Fallot | AD | ||
| Atrial septal defect 2 | AD | ||
| GATA5 | 611496 | Congenital heart defects, multiple types, 5 | AD, AR |
| GATA6 | 601656 | Persistent truncus arteriosus | - |
| Atrioventricular septal defect 5 | AD | ||
| Tetralogy of Fallot | AD | ||
| Atrial septal defect 9 | AD | ||
| Pancreatic agenesis and congenital heart defects | AD | ||
| GDF1 | 602880 | Congenital heart defects, multiple types, 6 | AD |
| Right atrial isomerism (Ivemark) | AR | ||
| GDF2 | 605120 | Telangiectasia, hereditary hemorrhagic, type 5 | AD |
| GJA1 | 121014 | Oculodentodigital dysplasia, autosomal recessive | AR |
| Atrioventricular septal defect 3 | AD | ||
| Syndactyly, type III | AD | ||
| Craniometaphyseal dysplasia, autosomal recessive | AR | ||
| Palmoplantar keratoderma with congenital alopecia | AD | ||
| Oculodentodigital dysplasia | AD | ||
| Hypoplastic left heart syndrome 1 | AR | ||
| Erythrokeratodermia variabilis et progressiva 3 | AD | ||
| GJA5 | 121013 | Atrial fibrillation, familial, 11 | AD |
| Atrial standstill, digenic (GJA5/SCN5A) | AD | ||
| GLA | 300644 | Fabry disease | XL |
| Fabry disease, cardiac variant | XL | ||
| GNB5 | 604447 | Intellectual developmental disorder with cardiac arrhythmia | AR |
| Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia | AR | ||
| GPC3 | 300037 | Simpson-Golabi-Behmel syndrome, type 1 | XLR |
| Wilms tumor, somatic | - | ||
| GPD1L | 611778 | Brugada syndrome 2 | - |
| HADHA | 600890 | HELLP syndrome, maternal, of pregnancy | AR |
| LCHAD deficiency | AR | ||
| Fatty liver, acute, of pregnancy | AR | ||
| Mitochondrial trifunctional protein deficiency | AR | ||
| HCCS | 300056 | Linear skin defects with multiple congenital anomalies 1 | XLD |
| HCN4 | 605206 | Sick sinus syndrome 2 | AD |
| Brugada syndrome 8 | - | ||
| Epilepsy, idiopathic generalized, susceptibility to, 18 | AD | ||
| HFE | 613609 | Porphyria variegata, susceptibility to | AD |
| Alzheimer disease, susceptibility to | AD | ||
| Hemochromatosis | AR | ||
| [Transferrin serum level QTL2] | - | ||
| Porphyria cutanea tarda, susceptibility to | AD, AR | ||
| Microvascular complications of diabetes 7 | - | ||
| HRAS | 190020 | Thyroid carcinoma, follicular, somatic | - |
| Spitz nevus or nevus spilus, somatic | - | ||
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - | ||
| Bladder cancer, somatic | - | ||
| Costello syndrome | AD | ||
| Nevus sebaceous or woolly hair nevus, somatic | - | ||
| Congenital myopathy with excess of muscle spindles | AD | ||
| HTRA1 | 602194 | Macular degeneration, age-related, 7 | - |
| CARASIL syndrome | AR | ||
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | AD | ||
| Macular degeneration, age-related, neovascular type | - | ||
| JAG1 | 601920 | Alagille syndrome 1 | AD |
| Charcot-Marie-Tooth disease, axonal, type 2HH | AD | ||
| ?Deafness, congenital heart defects, and posterior embryotoxon | AD | ||
| Tetralogy of Fallot | AD | ||
| JPH2 | 605267 | Cardiomyopathy, hypertrophic, 17 | AD |
| Cardiomyopathy, dilated, 2E | AR | ||
| JUP | 173325 | Arrhythmogenic right ventricular dysplasia 12 | AD |
| Naxos disease | AR | ||
| KANSL1 | 612452 | Koolen-De Vries syndrome | AD |
| KCNA1 | 176260 | Episodic ataxia/myokymia syndrome | AD |
| KCNA5 | 176267 | Atrial fibrillation, familial, 7 | AD |
| KCND3 | 605411 | Brugada syndrome 9 | AD |
| Spinocerebellar ataxia 19 | AD | ||
| KCNE1 | 176261 | Jervell and Lange-Nielsen syndrome 2 | AR |
| Long QT syndrome 5 | AD | ||
| KCNE2 | 603796 | Atrial fibrillation, familial, 4 | - |
| Long QT syndrome 6 | AD | ||
| KCNE3 | 604433 | ?Brugada syndrome 6 | - |
| KCNH2 | 152427 | Long QT syndrome 2 | AD |
| Short QT syndrome 1 | - | ||
| Long QT syndrome 2, acquired, susceptibility to | AD | ||
| KCNJ2 | 600681 | Short QT syndrome 3 | - |
| Atrial fibrillation, familial, 9 | AD | ||
| Andersen syndrome | AD | ||
| KCNJ5 | 600734 | Hyperaldosteronism, familial, type III | AD |
| Long QT syndrome 13 | AD | ||
| KCNK3 | 603220 | Pulmonary hypertension, primary, 4 | AD |
| KCNQ1 | 607542 | Long QT syndrome 1, acquired, susceptibility to | AD |
| Jervell and Lange-Nielsen syndrome | AR | ||
| Atrial fibrillation, familial, 3 | AD | ||
| Short QT syndrome 2 | AD | ||
| Long QT syndrome 1 | AD | ||
| KDM6A | 300128 | Kabuki syndrome 2 | XLD |
| KMT2D | 602113 | Kabuki syndrome 1 | AD |
| KRAS | 190070 | Arteriovenous malformation of the brain, somatic | - |
| Gastric cancer, somatic | - | ||
| Oculoectodermal syndrome, somatic | - | ||
| RAS-associated autoimmune leukoproliferative disorder | AD | ||
| Gastric cancer, somatic | - | ||
| Pancreatic carcinoma, somatic | - | ||
| Lung cancer, somatic | - | ||
| Cardiofaciocutaneous syndrome 2 | AD | ||
| Bladder cancer, somatic | - | ||
| Leukemia, acute myeloid, somatic | - | ||
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - | ||
| Breast cancer, somatic | - | ||
| Noonan syndrome 3 | AD | ||
| LAMA2 | 156225 | Muscular dystrophy, congenital, merosin deficient or partially deficient | AR |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | AR | ||
| LAMA4 | 600133 | Cardiomyopathy, dilated, 1JJ | AD |
| LAMP2 | 309060 | Danon disease | XLD |
| LDB3 | 605906 | Cardiomyopathy, hypertrophic, 24 | AD |
| Myopathy, myofibrillar, 4 | AD | ||
| Cardiomyopathy, dilated, 1C, with or without LVNC | AD | ||
| Left ventricular noncompaction 3 | AD | ||
| LDLR | 606945 | LDL cholesterol level QTL2 | AD, AR |
| Hypercholesterolemia, familial, 1 | AD, AR | ||
| LDLRAP1 | 605747 | Hypercholesterolemia, familial, 4 | AR |
| LMNA | 150330 | Restrictive dermopathy 2 | - |
| Malouf syndrome | AD | ||
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | AR | ||
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | AD | ||
| Hutchinson-Gilford progeria | AD | ||
| Muscular dystrophy, congenital | AD | ||
| Restrictive dermopathy, lethal | AR | ||
| Lipodystrophy, familial partial, type 2 | AD | ||
| Charcot-Marie-Tooth disease, type 2B1 | AR | ||
| Mandibuloacral dysplasia | AR | ||
| Cardiomyopathy, dilated, 1A | AD | ||
| Heart-hand syndrome, Slovenian type | AD | ||
| LRRC56 | 618227 | Ciliary dyskinesia, primary, 39 | AR |
| LZTR1 | 600574 | Noonan syndrome 2 | AR |
| Schwannomatosis-2, susceptibility to | AD | ||
| Noonan syndrome 10 | AD | ||
| MAP2K1 | 176872 | Cardiofaciocutaneous syndrome 3 | AD |
| Melorheostosis, isolated, somatic mosaic | - | ||
| MAP2K2 | 601263 | Cardiofaciocutaneous syndrome 4 | AD |
| MED12 | 300188 | Opitz-Kaveggia syndrome | XLR |
| Lujan-Fryns syndrome | XLR | ||
| Ohdo syndrome, X-linked | XLR | ||
| Hardikar syndrome | XLD | ||
| MED13L | 608771 | Transposition of the great arteries, dextro-looped 1 | AD |
| Mental retardation and distinctive facial features with or without cardiac defects | AD | ||
| MEIS2 | 601740 | Cleft palate, cardiac defects, and mental retardation | AD |
| MFAP5 | 601103 | Aortic aneurysm, familial thoracic 9 | AD |
| MGP | 154870 | Keutel syndrome | AR |
| MIB1 | 608677 | Left ventricular noncompaction 7 | AD |
| MMP21 | 608416 | Heterotaxy, visceral, 7, autosomal | AR |
| MMP3 | 185250 | Coronary heart disease, susceptibility to, 6 | - |
| MRAS | 608435 | Noonan syndrome 11 | AD |
| MYBPC3 | 600958 | Cardiomyopathy, hypertrophic, 4 | AD, AR |
| Cardiomyopathy, dilated, 1MM | AD | ||
| Left ventricular noncompaction 10 | AD | ||
| MYH11 | 160745 | Aortic aneurysm, familial thoracic 4 | AD |
| Visceral myopathy 2 | AD | ||
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 | AR | ||
| MYH6 | 160710 | Atrial septal defect 3 | - |
| Cardiomyopathy, hypertrophic, 14 | AD | ||
| Cardiomyopathy, dilated, 1EE | AD | ||
| Sick sinus syndrome 3 | - | ||
| MYH7 | 160760 | Myopathy, myosin storage, autosomal recessive | AR |
| Scapuloperoneal syndrome, myopathic type | AD | ||
| Left ventricular noncompaction 5 | AD | ||
| Cardiomyopathy, dilated, 1S | AD | ||
| Cardiomyopathy, hypertrophic, 1 | AD, DD | ||
| Myopathy, myosin storage, autosomal dominant | AD | ||
| Laing distal myopathy | AD | ||
| MYL2 | 160781 | Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy | AR |
| Cardiomyopathy, hypertrophic, 10 | AD | ||
| MYL3 | 160790 | Cardiomyopathy, hypertrophic, 8 | AD, AR |
| MYL4 | 160770 | ?Atrial fibrillation, familial, 18 | AD |
| MYLK | 600922 | Aortic aneurysm, familial thoracic 7 | AD |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome | AR | ||
| MYLK2 | 606566 | Cardiomyopathy, hypertrophic, 1, digenic | AD, DD |
| MYO6 | 600970 | Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy | AD |
| Deafness, autosomal dominant 22 | AD | ||
| Deafness, autosomal recessive 37 | AR | ||
| MYOZ2 | 605602 | Cardiomyopathy, hypertrophic, 16 | AD |
| MYPN | 608517 | Cardiomyopathy, hypertrophic, 22 | AD |
| Cardiomyopathy, dilated, 1KK | AD | ||
| Cardiomyopathy, familial restrictive, 4 | AD | ||
| Nemaline myopathy 11, autosomal recessive | AR | ||
| NEXN | 613121 | Cardiomyopathy, hypertrophic, 20 | AD |
| Cardiomyopathy, dilated, 1CC | AD | ||
| NF1 | 613113 | Watson syndrome | AD |
| Leukemia, juvenile myelomonocytic | AD, SM | ||
| Neurofibromatosis, type 1 | AD | ||
| Neurofibromatosis, familial spinal | AD | ||
| Neurofibromatosis-Noonan syndrome | AD | ||
| NIPBL | 608667 | Cornelia de Lange syndrome 1 | AD |
| NKX2-5 | 600584 | Hypoplastic left heart syndrome 2 | AD |
| Hypothyroidism, congenital nongoitrous, 5 | AD | ||
| Atrial septal defect 7, with or without AV conduction defects | AD | ||
| Conotruncal heart malformations, variable | - | ||
| Ventricular septal defect 3 | AD | ||
| Tetralogy of Fallot | AD | ||
| NKX2-6 | 611770 | Persistent truncus arteriosus | - |
| Conotruncal heart malformations | - | ||
| NME8 | 607421 | Ciliary dyskinesia, primary, 6 | AR |
| NODAL | 601265 | Heterotaxy, visceral, 5 | AD |
| NOTCH1 | 190198 | Adams-Oliver syndrome 5 | AD |
| Aortic valve disease 1 | AD | ||
| NOTCH2 | 600275 | Alagille syndrome 2 | AD |
| Hajdu-Cheney syndrome | AD | ||
| NOTCH3 | 600276 | ?Myofibromatosis, infantile 2 | AD |
| Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | AD | ||
| Lateral meningocele syndrome | AD | ||
| NPPA | 108780 | Atrial fibrillation, familial, 6 | AD |
| Atrial standstill 2 | AR | ||
| NR2F2 | 107773 | 46, XX sex reversal 5 | AD |
| Congenital heart defects, multiple types, 4 | AD | ||
| NRAS | 164790 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - |
| Colorectal cancer, somatic | - | ||
| Neurocutaneous melanosis, somatic | - | ||
| ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | - | ||
| Noonan syndrome 6 | AD | ||
| Melanocytic nevus syndrome, congenital, somatic | - | ||
| Thyroid carcinoma, follicular, somatic | - | ||
| Epidermal nevus, somatic | - | ||
| NSD1 | 606681 | Sotos syndrome 1 | AD |
| ODAD1 | 615038 | Ciliary dyskinesia, primary, 20 | AR |
| ODAD2 | 615408 | Ciliary dyskinesia, primary, 23 | AR |
| ODAD3 | 615956 | Ciliary dyskinesia, primary, 30 | AR |
| ODAD4 | 617095 | Ciliary dyskinesia, primary, 35 | AR |
| PKD1L1 | 609721 | Heterotaxy, visceral, 8, autosomal | AR |
| PKD2 | 173910 | Polycystic kidney disease 2 | AD |
| PKP2 | 602861 | Arrhythmogenic right ventricular dysplasia 9 | AD |
| PLN | 172405 | Cardiomyopathy, dilated, 1P | - |
| Cardiomyopathy, hypertrophic, 18 | AD | ||
| PPP1CB | 600590 | Noonan syndrome-like disorder with loose anagen hair 2 | AD |
| PRDM16 | 605557 | Cardiomyopathy, dilated, 1LL | AD |
| Left ventricular noncompaction 8 | AD | ||
| PRKAG2 | 602743 | Glycogen storage disease of heart, lethal congenital | AD |
| Cardiomyopathy, hypertrophic 6 | AD | ||
| Wolff-Parkinson-White syndrome | AD | ||
| PRKAR1A | 188830 | Myxoma, intracardiac | AD |
| Pigmented nodular adrenocortical disease, primary, 1 | AD | ||
| Carney complex, type 1 | AD | ||
| Acrodysostosis 1, with or without hormone resistance | AD | ||
| PRKG1 | 176894 | Aortic aneurysm, familial thoracic 8 | AD |
| PSEN1 | 104311 | Cardiomyopathy, dilated, 1U | AD |
| Pick disease | AD | ||
| Alzheimer disease, type 3 | AD | ||
| Alzheimer disease, type 3, with spastic paraparesis and apraxia | AD | ||
| ?Acne inversa, familial, 3 | AD | ||
| Dementia, frontotemporal | AD | ||
| Alzheimer disease, type 3, with spastic paraparesis and unusual plaques | AD | ||
| PSEN2 | 600759 | Alzheimer disease-4 | AD |
| Cardiomyopathy, dilated, 1V | AD | ||
| PTPN11 | 176876 | Leukemia, juvenile myelomonocytic, somatic | - |
| LEOPARD syndrome 1 | AD | ||
| Metachondromatosis | AD | ||
| Noonan syndrome 1 | AD | ||
| RAF1 | 164760 | Noonan syndrome 5 | AD |
| LEOPARD syndrome 2 | - | ||
| Cardiomyopathy, dilated, 1NN | AD | ||
| RARB | 180220 | Microphthalmia, syndromic 12 | AD, AR |
| RASA1 | 139150 | Basal cell carcinoma, somatic | - |
| Capillary malformation-arteriovenous malformation 1 | AD | ||
| RBM10 | 300080 | TARP syndrome | XLR |
| RBM20 | 613171 | Cardiomyopathy, dilated, 1DD | AD |
| RIT1 | 609591 | Noonan syndrome 8 | AD |
| ROBO4 | 607528 | Aortic valve disease 8 | AD |
| RYR1 | 180901 | Malignant hyperthermia susceptibility 1 | AD |
| King-Denborough syndrome | AD | ||
| King-Denborough syndrome | AD | ||
| Central core disease | AD, AR | ||
| Neuromuscular disease, congenital, with uniform type 1 fiber | AD, AR | ||
| Minicore myopathy with external ophthalmoplegia | AR | ||
| RYR2 | 180902 | Arrhythmogenic right ventricular dysplasia 2 | AD |
| Ventricular tachycardia, catecholaminergic polymorphic, 1 | AD | ||
| Ventricular arrythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | AD | ||
| SALL1 | 602218 | Townes-Brocks branchiootorenal-like syndrome | AD |
| Townes-Brocks syndrome 1 | AD | ||
| SALL4 | 607343 | IVIC syndrome | AD |
| Duane-radial ray syndrome | AD | ||
| SCN10A | 604427 | Episodic pain syndrome, familial, 2 | AD |
| SCN1B | 600235 | Atrial fibrillation, familial, 13 | AD |
| Epilepsy, generalized, with febrile seizures plus, type 1 | AD | ||
| Brugada syndrome 5 | - | ||
| Cardiac conduction defect, nonspecific | - | ||
| Developmental and epileptic encephalopathy 52 | AR | ||
| SCN2B | 601327 | Atrial fibrillation, familial, 14 | AD |
| SCN3B | 608214 | Brugada syndrome 7 | AD |
| Atrial fibrillation, familial, 16 | AD | ||
| SCN4B | 608256 | Atrial fibrillation, familial, 17 | AD |
| Long QT syndrome 10 | AD | ||
| SCN5A | 600163 | Heart block, nonprogressive | AD |
| Ventricular fibrillation, familial, 1 | - | ||
| Sick sinus syndrome 1 | AR | ||
| Brugada syndrome 1 | AD | ||
| Heart block, progressive, type IA | AD | ||
| Atrial fibrillation, familial, 10 | AD | ||
| Long QT syndrome 3 | AD | ||
| Cardiomyopathy, dilated, 1E | AD | ||
| Sudden infant death syndrome, susceptibility to | AR | ||
| SCO2 | 604272 | Myopia 6 | AD |
| Mitochondrial complex IV deficiency, nuclear type 2 | AR | ||
| SDHA | 600857 | Neurodegeneration with ataxia and late-onset optic atrophy | AD |
| Cardiomyopathy, dilated, 1GG | AR | ||
| Leigh syndrome | AR, Mitochondrial | ||
| Mitochondrial respiratory chain complex II deficiency | AR | ||
| Paragangliomas 5 | AD | ||
| SELENON | 606210 | Muscular dystrophy, rigid spine, 1 | AR |
| Myopathy, congenital, with fiber-type disproportion | AD, AR | ||
| SEMA3A | 603961 | Hypogonadotropic hypogonadism 16 with or without anosmia | AD |
| SGCD | 601411 | Muscular dystrophy, limb-girdle, autosomal recessive 6 | AR |
| Cardiomyopathy, dilated, 1L | - | ||
| SGCG | 608896 | Muscular dystrophy, limb-girdle, autosomal recessive 5 | AR |
| SHOC2 | 602775 | Noonan syndrome-like with loose anagen hair 1 | AD |
| SKI | 164780 | Shprintzen-Goldberg syndrome | AD |
| SLC12A3 | 600968 | Gitelman syndrome | AR |
| SLC22A5 | 603377 | Carnitine deficiency, systemic primary | AR |
| SLC25A4 | 103220 | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR | AR |
| Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD | AD | ||
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | AD | ||
| SLC2A10 | 606145 | Arterial tortuosity syndrome | AR |
| SMAD3 | 603109 | Loeys-Dietz syndrome 3 | AD |
| SMAD4 | 600993 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | AD |
| Pancreatic cancer, somatic | - | ||
| Myhre syndrome | AD | ||
| Polyposis, juvenile intestinal | AD | ||
| SMAD6 | 602931 | Craniosynostosis 7, susceptibility to | AD |
| Aortic valve disease 2 | AD | ||
| Radioulnar synostosis, nonsyndromic | AD | ||
| SMC3 | 606062 | Cornelia de Lange syndrome 3 | AD |
| SNTA1 | 601017 | Long QT syndrome 12 | AD |
| SOS1 | 182530 | Noonan syndrome 4 | AD |
| ?Fibromatosis, gingival, 1 | AD | ||
| SOS2 | 601247 | Noonan syndrome 9 | AD |
| SOX2 | 184429 | Microphthalmia, syndromic 3 | AD |
| Optic nerve hypoplasia and abnormalities of the central nervous system | AD | ||
| SPAG1 | 603395 | Ciliary dyskinesia, primary, 28 | AR |
| STRA6 | 610745 | Microphthalmia, isolated, with coloboma 8 | AR |
| Microphthalmia, syndromic 9 | AR | ||
| SYNE1 | 608441 | Arthrogryposis multiplex congenita 3, myogenic type | AR |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | AD | ||
| Spinocerebellar ataxia, autosomal recessive 8 | AR | ||
| SYNE2 | 608442 | Emery-Dreifuss muscular dystrophy 5, autosomal dominant | AD |
| TAB2 | 605101 | Congenital heart defects, nonsyndromic, 2 | AD |
| TAFAZZIN | 300394 | Barth syndrome | XLR |
| TBX1 | 602054 | Velocardiofacial syndrome | AD |
| Tetralogy of Fallot | AD | ||
| DiGeorge syndrome | AD | ||
| Conotruncal anomaly face syndrome | - | ||
| TBX20 | 606061 | Atrial septal defect 4 | - |
| TBX3 | 601621 | Ulnar-mammary syndrome | AD |
| TBX5 | 601620 | Holt-Oram syndrome | AD |
| TCAP | 604488 | Muscular dystrophy, limb-girdle, autosomal recessive 7 | AR |
| Cardiomyopathy, hypertrophic, 25 | AD | ||
| TECRL | 617242 | Ventricular tachycardia, catecholaminergic polymorphic, 3 | AR |
| TFAP2B | 601601 | Patent ductus arteriosus 2 | AD |
| Char syndrome | AD | ||
| TGFB2 | 190220 | Loeys-Dietz syndrome 4 | AD |
| TGFB3 | 190230 | Loeys-Dietz syndrome 5 | AD |
| Arrhythmogenic right ventricular dysplasia 1 | AD | ||
| TGFBR1 | 190181 | Loeys-Dietz syndrome 1 | AD |
| Multiple self-healing squamous epithelioma, susceptibility to | AD | ||
| TGFBR2 | 190182 | Colorectal cancer, hereditary nonpolyposis, type 6 | - |
| Loeys-Dietz syndrome 2 | AD | ||
| Esophageal cancer, somatic | - | ||
| TLL1 | 606742 | Atrial septal defect 6 | AD |
| TMEM43 | 612048 | Auditory neuropathy, autosomal dominant 3 | AD |
| Arrhythmogenic right ventricular dysplasia 5 | AD | ||
| Emery-Dreifuss muscular dystrophy 7, AD | AD | ||
| TNNC1 | 191040 | Cardiomyopathy, dilated, 1Z | - |
| Cardiomyopathy, hypertrophic, 13 | AD | ||
| TNNI3 | 191044 | Cardiomyopathy, hypertrophic, 7 | AD |
| Cardiomyopathy, familial restrictive, 1 | AD | ||
| Cardiomyopathy, dilated, 1FF | - | ||
| ?Cardiomyopathy, dilated, 2A | AR | ||
| TNNI3K | 613932 | Cardiac conduction disease with or without dilated cardiomyopathy | AD |
| TNNT2 | 191045 | Left ventricular noncompaction 6 | AD |
| Cardiomyopathy, familial restrictive, 3 | AD | ||
| Cardiomyopathy, dilated, 1D | AD | ||
| Cardiomyopathy, hypertrophic, 2 | AD | ||
| TPM1 | 191010 | Cardiomyopathy, dilated, 1Y | AD |
| Left ventricular noncompaction 9 | AD | ||
| Cardiomyopathy, hypertrophic, 3 | AD | ||
| TRDN | 603283 | Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness | AR |
| TREX1 | 606609 | Aicardi-Goutieres syndrome 1, dominant and recessive | AD, AR |
| Chilblain lupus | AD | ||
| Vasculopathy, retinal, with cerebral leukodystrophy | AD | ||
| Systemic lupus erythematosus, susceptibility to | AD | ||
| TRPM4 | 606936 | Erythrokeratodermia veriabilis et progressiva 6 | AD |
| Progressive familial heart block, type IB | AD | ||
| TRPM6 | 607009 | Hypomagnesemia 1, intestinal | AR |
| TTC12 | 610732 | Ciliary dyskinesia, primary, 45 | AR |
| TTN | 188840 | Cardiomyopathy, dilated, 1G | - |
| Muscular dystrophy, limb-girdle, autosomal recessive 10 | AR | ||
| Tibial muscular dystrophy, tardive | AD | ||
| Myopathy, myofibrillar, 9, with early respiratory failure | AD | ||
| Salih myopathy | AR | ||
| Cardiomyopathy, familial hypertrophic, 9 | AD | ||
| TTR | 176300 | [Dystransthyretinemic hyperthyroxinemia] | AD |
| Carpal tunnel syndrome, familial | AD | ||
| Amyloidosis, hereditary, transthyretin-related | AD | ||
| VCL | 193065 | Cardiomyopathy, dilated, 1W | - |
| Cardiomyopathy, hypertrophic, 15 | AD | ||
| ZEB2 | 605802 | Mowat-Wilson syndrome | AD |
| ZFPM2 | 603693 | Tetralogy of Fallot | AD |
| Diaphragmatic hernia 3 | - | ||
| 46XY sex reversal 9 | AD | ||
| ZIC3 | 300265 | VACTERL association, X-linked | XLR |
| Congenital heart defects, nonsyndromic, 1, X-linked | XLR | ||
| Heterotaxy, visceral, 1, X-linked | XLR | ||
| ZMYND10 | 607070 | Ciliary dyskinesia, primary, 22 | AR |
Common syndromes and disorders covered
- Arrhythmogenic right ventricular cardiomyopathy
- Brugada syndrome
- Catecholaminergic polymorphic ventricular tachycardia
- Congenital heart defects
- Dilated cardiomyopathy
- Dolichoectasia
- Hereditary arrhythmia syndromes
- Hereditary hemorrhagic telangiectasia
- Heterotaxy syndrome
- Hypertrophic cardiomyopathy
- Hypomagnesemia
- Long QT syndrome
- Short QT syndrome
Downloads
CentoCardio – Product Sheet
NGS Panel for Cardiology
CentoCardio – Sample Report, Positive
POSITIVE RESULTS
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