El diagnóstico genético es el modo más eficiente de clasificar una enfermedad cardiovascular hereditaria y permite obtener la información necesaria para elegir un tratamiento correcto. Además, permite identificar a familiares en riesgo con el objetivo de realizar tratamientos preventivos y/o comenzar un estilo de vida adecuado.
PANELES:
Consulte por todos nuestros paneles disponibles y nuestros paneles customizables.
Panel Básico de Hiperlipidemia
| APOB | Hypercholesterolemia, Hypobetalipoproteinemia |
| LDLR | Hypercholesterolemia |
| LDLRAP1 | Hypercholesterolemia |
| PCSK9 | Hypercholesterolemia |
Panel Completo de Cardiología
| A2ML1 | Noonan syndrome |
| AARS2 | Leukoencephalopathy, progressive, with ovarian failure |
| ABCB4 | Cholestasis, Gallbladder disease, Low phospholipid-associated cholelithiasis |
| ABCC9 | Atrial fibrillation, Cantu syndrome, Dilated cardiomyopathy (DCM) |
| ACAD9 | Acyl-CoA dehydrogenase family, deficiency |
| ACADVL | Acyl-CoA dehydrogenase, very long chain, deficiency |
| ACTA1 | Myopathy |
| ACTA2 | Aortic aneurysm, familial thoracic, Moyamoya disease, Multisystemic smooth muscle dysfunction syndrome |
| ACTC1 | Atrial septal defect, Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction |
| ACTN2 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| AGK | Sengers syndrome |
| AGL | Glycogen storage disease |
| AKAP9 | Long QT syndrome |
| ALPK3 | Pediatric cardiomyopathy |
| ANK2 | Cardiac arrhythmia, Long QT syndrome |
| ANKRD1 | Familial dilated cardiomyopathy |
| ANO5 | Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies |
| APOA1 | Amyloidosis, systemic nonneuronopathic, Hypoalphalipoproteinemia |
| APOB | Hypercholesterolemia, Hypobetalipoproteinemia |
| BAG3 | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| BRAF | Cardiofaciocutaneous syndrome, LEOPARD syndrome, Noonan syndrome |
| CACNA1C | Brugada syndrome, Timothy syndrome |
| CACNA2D4 | Retinal cone dystrophy |
| CACNB2 | Brugada syndrome |
| CALM1 | Long QT syndrome, Recurrent cardiac arrest, infantile, Ventricular tachycardia, catecholaminergic polymorphic |
| CALM2 | Long QT syndrome |
| CALM3 | Catecholaminergic polymorphic ventricular tachycardia |
| CAPN3 | Eosinophilic myositis, Muscular dystrophy, limb-girdle |
| CASQ2 | Ventricular tachycardia, catecholaminergic, polymorphic |
| CAV3 | Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome |
| CBL | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia |
| CHKB | Muscular dystrophy, congenital, megaconial |
| COX15 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Leigh syndrome |
| CPT1A | Carnitine palmitoyltransferase deficiency |
| CPT2 | Carnitine palmitoyltransferase II deficiency |
| CRYAB | Cataract, myofibrillar myopathy and cardiomyopathy, Congenital cataract and cardiomyopathy, Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| CSRP3 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| CTNNA3 | Arrhythmogenic right ventricular dysplasia |
| DAG1 | Muscular dystrophy-dystroglycanopathy |
| DBH | Dopamine beta-hydroxylase deficiency |
| DES | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| DMD | Becker muscular dystrophy, Dilated cardiomyopathy (DCM), Duchenne muscular dystrophy |
| DNAJC19 | 3-methylglutaconic aciduria |
| DSC2 | Arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair |
| DSG2 | Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM) |
| DSP | Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis |
| DYSF | Miyoshi muscular dystrophy, Muscular dystrophy, limb-girdle, Myopathy, distal, with anterior tibial onset |
| EMD | Emery-Dreifuss muscular dystrophy |
| ENPP1 | Arterial calcification, Hypophosphatemic rickets |
| ETFA | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
| ETFB | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
| ETFDH | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
| EYA4 | Dilated cardiomyopathy (DCM) |
| FBXO32 | Dilated cardiomyopathy (DCM) |
| FHL1 | Emery-Dreifuss muscular dystrophy, Myopathy with postural muscle atrophy, Reducing bod myopathy |
| FKRP | Muscular dystrophy-dystroglycanopathy |
| FKTN | Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (limb-girdle) |
| FLNC | Myopathy |
| FOXRED1 | Leigh syndrome, Mitochondrial complex I deficiency |
| FXN | Friedreich ataxia |
| GAA | Glycogen storage disease |
| GATA5 | Familial atrial fibrillation, Single ventricular septal defect, Tetralogy of Fallot |
| GATAD1 | Dilated cardiomyopathy (DCM) |
| GBE1 | Glycogen storage disease |
| GFM1 | Combined oxidative phosphorylation deficiency |
| GJA5 | Atrial fibrillation, Atrial standstill, digenic, Progressive familial heart block |
| GLA | Fabry disease |
| GLB1 | GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome) |
| GMPPB | Limb-girdle muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| GNE | Inclusion body myopathy, Nonaka myopathy, Sialuria |
| GUSB | Mucopolysaccharidosis |
| HCN4 | Brugada syndrome, Sick sinus syndrome |
| HFE | Hemochromatosis |
| HRAS | Congenital myopathy with excess of muscle spindles, Costello syndrome |
| ISPD | Muscular dystrophy-dystroglycanopathy |
| JPH2 | Hypertrophic cardiomyopathy (HCM) |
| JUP | Arrhythmogenic right ventricular dysplasia, Naxos disease |
| KCNA5 | Atrial fibrillation |
| KCND3 | Brugada syndrome |
| KCNE1 | Jervell and Lange-Nielsen syndrome, Long QT syndrome |
| KCNE2 | Atrial fibrillation, familial, Long QT syndrome |
| KCNE3 | Brugada syndrome |
| KCNH2 | Long QT syndrome, Short QT syndrome |
| KCNJ2 | Andersen syndrome, Atrial fibrillation, Long QT syndrome, Short QT syndrome |
| KCNJ5 | Hyperaldosteronism, familial, Long QT syndrome |
| KCNQ1 | Atrial fibrillation, Jervell and Lange-Nielsen syndrome, Long QT syndrome, Short QT syndrome |
| KRAS | Cardiofaciocutaneous syndrome, Noonan syndrome |
| LAMA2 | Muscular dystrophy, congenital merosin-deficient, Schizophrenia |
| LAMP2 | Danon disease |
| LARGE | Muscular dystrophy-dystroglycanopathy |
| LDB3 | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| LMNA | Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type |
| LZTR1 | Noonan syndrome, Schwannomatosis |
| MAP2K1 | Cardiofaciocutaneous syndrome |
| MAP2K2 | Cardiofaciocutaneous syndrome |
| MTO1 | Combined oxidative phosphorylation deficiency |
| MYBPC3 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction |
| MYH6 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| MYH7 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage |
| MYL2 | Hypertrophic cardiomyopathy (HCM) |
| MYL3 | Hypertrophic cardiomyopathy (HCM) |
| MYOT | Myopathy, myofibrillar |
| MYPN | Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| NEXN | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| NF1 | Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome |
| NKX2-5 | Atrial septal defect, Conotruncal heart malformations, Hypothyroidism, congenital nongoitrous, |
| NOS1AP | Romano-Ward syndrome |
| NRAS | Noonan syndrome |
| NSUN2 | Dubowitz syndrome, Non-syndromic intellectual disability |
| PKP2 | Arrhythmogenic right ventricular dysplasia |
| PLEC | Epidermolysis bullosa, Muscular dystrophy, limb-girdle |
| PLEKHM2 | Dilated cardiomyopathy (DCM), left ventricular noncompaction |
| PLN | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| PNPLA2 | Neutral lipid storage disease with myopathy |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy |
| POMT1 | Muscular dystrophy-dystroglycanopathy |
| POMT2 | Muscular dystrophy-dystroglycanopathy |
| PRDM16 | Dilated cardiomyopathy (DCM), Left ventricular noncompaction |
| PRKAG2 | Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndrome |
| PTPN11 | LEOPARD syndrome, Metachondromatosis, Noonan syndrome |
| RAF1 | Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome |
| RASA2 | Noonan syndrome |
| RBM20 | Dilated cardiomyopathy (DCM) |
| RIT1 | Noonan syndrome |
| RRAS | Noonan-syndrome like phenotype |
| RYR2 | Arrhythmogenic right ventricular dysplasia, Ventricular tachycardia, catecholaminergic polymorphic |
| SCN1B | Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus |
| SCN3B | Atrial fibrillation, familial, Brugada syndrome |
| SCN5A | Atrial fibrillation, Brugada syndrome, Dilated cardiomyopathy (DCM), Heart block, nonprogressive, Heart block, progressive, Long QT syndrome, Sick sinus syndrome, Ventricular fibrillation |
| SCN10A | Brugada syndrome, Channelopathy-associated congenital insensitivity to pain, Paroxysmal extreme pain disorder, Primary erythermalgia, Sodium channelopathy-related small fiber neuropathy |
| SCNN1B | Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism |
| SCNN1G | Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism |
| SCO2 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Hypertrophic cardiomyopathy (HCM), Leigh syndrome, Myopia |
| SDHA | Dilated cardiomyopathy (DCM), Gastrointestinal stromal tumor, Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Paragangliomas |
| SELENON | Muscular dystrophy, rigid spine, Myopathy, congenital, with fiber- disproportion |
| SGCA | Muscular dystrophy, limb-girdle |
| SGCB | Muscular dystrophy, limb-girdle |
| SGCD | Dilated cardiomyopathy (DCM), Muscular dystrophy, limb-girdle |
| SGCG | Muscular dystrophy, limb-girdle |
| SHOC2 | Noonan-like syndrome with loose anagen hair |
| SLC22A5 | Carnitine deficiency, systemic primary |
| SLC25A4 | Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| SLC25A20 | Carnitine-acylcarnitine translocase deficiency |
| SMCHD1 | Facioscapulohumeral muscular dystrophy |
| SOS1 | Noonan syndrome |
| SPRED1 | Legius syndrome |
| TAZ | 3-Methylglutaconic aciduria, (Barth syndrome) |
| TBX5 | Holt-Oram syndrome |
| TCAP | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Muscular dystrophy, limb-girdle |
| TGFB3 | Arrhythmogenic right ventricular dysplasia, Loeys-Dietz syndrome (Reinhoff syndrome) |
| TMEM43 | Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy |
| TMEM70 | Mitochondrial complex V (ATP synthase) deficiency |
| TNNC1 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| TNNI3 | Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| TNNT2 | Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction |
| TPM1 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| TRDN | Ventricular tachycardia, catecholaminergic polymorphic |
| TRIM32 | Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle |
| TRPM4 | Progressive familial heart block |
| TSFM | Combined oxidative phosphorylation deficiency |
| TTN | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| TTR | Amyloidosis, hereditary, transthyretin-related, Dystransthyretinemic hyperthyroxinemia |
| VCL | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| VCP | Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Inclusion body myopathy with early-onset Paget disease |
| XK | McLeod syndrome |
Panel de Anomalías Cardíacas Congénitas
| ACTA2 | Aortic aneurysm, familial thoracic, Moyamoya disease, Multisystemic smooth muscle dysfunction syndrome |
| ACTC1 | Atrial septal defect, Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction |
| BMPR2 | Pulmonary hypertension, primary, Pulmonary venoocclusive disease |
| CHD7 | CHARGE syndrome, Isolated gonadotropin-releasing hormone deficiency |
| CTC1 | Cerebroretinal microangiopathy with calcifications and cysts |
| ELN | Cutis laxa, Supravalvular aortic stenosis |
| FLNA | Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects |
| FOXC1 | Axenfeld-Rieger syndrome, Iridogoniodysgenesis, Peters anomaly |
| FOXH1 | Congenital heart malformations, Holoprosencephaly |
| G6PC3 | Dursun syndrome, Neutropenia, severe congenital |
| GATA4 | Atrial septal defect, Atrioventricular septal defect, Testicular anomalies with or without congenital heart disease, Tetralogy of Fallot, Ventricular septal defect |
| GATA5 | Familial atrial fibrillation, Single ventricular septal defect, Tetralogy of Fallot |
| GATA6 | Heart defects, congenital, and other congenital anomalies |
| GJA1 | Oculodentodigital dysplasia mild type, Oculodentodigital dysplasia severe type, Syndactyly type 3 |
| GJA5 | Atrial fibrillation, Atrial standstill, digenic, Progressive familial heart block |
| HRAS | Congenital myopathy with excess of muscle spindles, Costello syndrome |
| JAG1 | Alagille syndrome |
| NF1 | Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome |
| NKX2-5 | Atrial septal defect, Conotruncal heart malformations, Hypothyroidism, congenital nongoitrous, |
| NODAL | Heterotaxy, visceral |
| NOTCH1 | Aortic valve disease |
| NOTCH2 | Alagille syndrome, Hajdu-Cheney syndrome |
| TBX1 | Conotruncal anomaly face syndrome |
| TBX5 | Holt-Oram syndrome |
| TFAP2B | Char syndrome, Patent ductus arteriosus, nonsyndromic |
| TLL1 | Atrial septal defect |
| ZFPM2 | 46,XY sex reversal |
| ZIC3 | Congenital heart defects, nonsyndromic, Heterotaxy, visceral, VACTERL association |
Panel de Aorta
ABCC6
Pseudoxanthoma elasticum
ACTA2
Aortic aneurysm, familial thoracic, Moyamoya disease, Multisystemic smooth muscle dysfunction syndrome
ADAMTS2
Ehlers-Danlos syndrome
CBS
Homocystinuria due to cystathionine beta-synthase deficiency
COL1A1
Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
COL1A2
Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4
COL2A1
Achondrogenesis type 2, Avascular necrosis of femoral head, Czech dysplasia, Epiphyseal dysplasia, with myopia and deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1
COL3A1
Ehlers-Danlos syndrome
COL5A1
Ehlers-Danlos syndrome
COL5A2
Ehlers-Danlos syndrome
COL9A1
Multiple epiphyseal dysplasia type 6 (EDM6), Stickler syndrome recessive type
COL9A2
Multiple epiphyseal dysplasia type 2 (EDM2), Stickler syndrome
COL11A1
Fibrochondrogenesis, Marshall syndrome, Stickler syndrome type 2
COL18A1
Knobloch syndrome
EFEMP2
Cutis laxa
ELN
Cutis laxa, Supravalvular aortic stenosis
ENPP1
Arterial calcification, Hypophosphatemic rickets
FBLN5
Cutis laxa, Macular degeneration, age-related
FBN1
Acromicric dysplasia, Geleophysic dysplasia, MASS syndrome, Marfan syndrome, Shprintzen-Goldberg syndrome, Weill-Marchesani syndrome
FBN2
Congenital contractural arachnodactyly (Beals syndrome)
FKBP14
Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
FLNA
Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects
GATA5
Familial atrial fibrillation, Single ventricular septal defect, Tetralogy of Fallot
MFAP5
Aortic aneurysm, familial thoracic
MYH11
Aortic aneurysm, familial thoracic
NOTCH1
Aortic valve disease
PLOD1
Ehlers-Danlos syndrome
SKI
Shprintzen-Goldberg syndrome
SLC2A10
Arterial tortuosity syndrome
SLC39A13
Spondylodysplastic Ehlers-Danlos syndrome
SMAD3
Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome
TGFB2
Loeys-Dietz syndrome
TGFB3
Arrhythmogenic right ventricular dysplasia, Loeys-Dietz syndrome (Reinhoff syndrome)
TGFBR1
Loeys-Dietz syndrome
TGFBR2
Loeys-Dietz syndrome
TNXB
Ehlers-Danlos syndrome
ZNF469
Brittle cornea syndrome
Panel de Arritmia
| ABCB4 | Cholestasis, Gallbladder disease, Low phospholipid-associated cholelithiasis |
| AKAP9 | Long QT syndrome |
| ANK2 | Cardiac arrhythmia, Long QT syndrome |
| CACNA1C | Brugada syndrome, Timothy syndrome |
| CACNA2D4 | Retinal cone dystrophy |
| CACNB2 | Brugada syndrome |
| CALM1 | Long QT syndrome, Recurrent cardiac arrest, infantile, Ventricular tachycardia, catecholaminergic polymorphic |
| CALM2 | Long QT syndrome |
| CALM3 | Catecholaminergic polymorphic ventricular tachycardia |
| CASQ2 | Ventricular tachycardia, catecholaminergic, polymorphic |
| CAV3 | Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome |
| CTNNA3 | Arrhythmogenic right ventricular dysplasia |
| DBH | Dopamine beta-hydroxylase deficiency |
| DES | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| DSC2 | Arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair |
| DSG2 | Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM) |
| DSP | Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis |
| GATA6 | Heart defects, congenital, and other congenital anomalies |
| GJA5 | Atrial fibrillation, Atrial standstill, digenic, Progressive familial heart block |
| HCN4 | Brugada syndrome, Sick sinus syndrome |
| JUP | Arrhythmogenic right ventricular dysplasia, Naxos disease |
| KCNA5 | Atrial fibrillation |
| KCND3 | Brugada syndrome |
| KCNE1 | Jervell and Lange-Nielsen syndrome, Long QT syndrome |
| KCNE2 | Atrial fibrillation, familial, Long QT syndrome |
| KCNE3 | Brugada syndrome |
| KCNH2 | Long QT syndrome, Short QT syndrome |
| KCNJ2 | Andersen syndrome, Atrial fibrillation, Long QT syndrome, Short QT syndrome |
| KCNJ5 | Hyperaldosteronism, familial, Long QT syndrome |
| KCNQ1 | Atrial fibrillation, Jervell and Lange-Nielsen syndrome, Long QT syndrome, Short QT syndrome |
| LDB3 | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| LMNA | Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type |
| MYH6 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| NKX2-5 | Atrial septal defect, Conotruncal heart malformations, Hypothyroidism, congenital nongoitrous, |
| NOS1AP | Romano-Ward syndrome |
| PKP2 | Arrhythmogenic right ventricular dysplasia |
| PLN | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| RYR2 | Arrhythmogenic right ventricular dysplasia, Ventricular tachycardia, catecholaminergic polymorphic |
| SCN1B | Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus |
| SCN3B | Atrial fibrillation, familial, Brugada syndrome |
| SCN5A | Atrial fibrillation, Brugada syndrome, Dilated cardiomyopathy (DCM), Heart block, nonprogressive, Heart block, progressive, Long QT syndrome, Sick sinus syndrome, Ventricular fibrillation |
| SCN10A | Brugada syndrome, Channelopathy-associated congenital insensitivity to pain, Paroxysmal extreme pain disorder, Primary erythermalgia, Sodium channelopathy-related small fiber neuropathy |
| TBX5 | Holt-Oram syndrome |
| TGFB3 | Arrhythmogenic right ventricular dysplasia, Loeys-Dietz syndrome (Reinhoff syndrome) |
| TMEM43 | Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy |
| TNNI3 | Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| TNNT2 | Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction |
| TRDN | Ventricular tachycardia, catecholaminergic polymorphic |
| TRPM4 | Progressive familial heart block |
| TTN | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
Panel de Corazón
Panel de Fibrilación Atrial
| ABCB4 | Cholestasis, Gallbladder disease, Low phospholipid-associated cholelithiasis |
| CACNA2D4 | Retinal cone dystrophy |
| CACNB2 | Brugada syndrome |
| GATA6 | Heart defects, congenital, and other congenital anomalies |
| GJA5 | Atrial fibrillation, Atrial standstill, digenic, Progressive familial heart block |
| HCN4 | Brugada syndrome, Sick sinus syndrome |
| KCNA5 | Atrial fibrillation |
| KCND3 | Brugada syndrome |
| KCNE1 | Jervell and Lange-Nielsen syndrome, Long QT syndrome |
| KCNE2 | Atrial fibrillation, familial, Long QT syndrome |
| KCNH2 | Long QT syndrome, Short QT syndrome |
| KCNJ2 | Andersen syndrome, Atrial fibrillation, Long QT syndrome, Short QT syndrome |
| KCNJ5 | Hyperaldosteronism, familial, Long QT syndrome |
| KCNQ1 | Atrial fibrillation, Jervell and Lange-Nielsen syndrome, Long QT syndrome, Short QT syndrome |
| LDB3 | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| LMNA | Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type |
| RYR2 | Arrhythmogenic right ventricular dysplasia, Ventricular tachycardia, catecholaminergic polymorphic |
| SCN1B | Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus |
| SCN3B | Atrial fibrillation, familial, Brugada syndrome |
| SCN5A | Atrial fibrillation, Brugada syndrome, Dilated cardiomyopathy (DCM), Heart block, nonprogressive, Heart block, progressive, Long QT syndrome, Sick sinus syndrome, Ventricular fibrillation |
| SCN10A | Brugada syndrome, Channelopathy-associated congenital insensitivity to pain, Paroxysmal extreme pain disorder, Primary erythermalgia, Sodium channelopathy-related small fiber neuropathy |
| TBX5 | Holt-Oram syndrome |
Panel de Hiperlipidemia
| ABCA1 | ABCA1 deficiency, HDL deficiency, Tangier disease |
| ABCG5 | Sitosterolemia |
| ABCG8 | Sitosterolemia |
| APOA1 | Amyloidosis, systemic nonneuronopathic, Hypoalphalipoproteinemia |
| APOB | Hypercholesterolemia, Hypobetalipoproteinemia |
| APOC3 | Apolipoprotein C-III deficiency |
| APOE | Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy, Sea-blue histiocyte disease |
| LDLR | Hypercholesterolemia |
| LDLRAP1 | Hypercholesterolemia |
| LPL | Combined hyperlipidemia, familial, Hyperlipoproteinemia, Lipoprotein lipase deficiency |
| PCSK9 | Hypercholesterolemia |
Panel de Hipertensión Arterial Pulmonar
| ACVRL1 | Hereditary hemorrhagic telangiectasia |
| BMPR2 | Pulmonary hypertension, primary, Pulmonary venoocclusive disease |
| CAV1 | Lipodystrophy, congenital generalized, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome |
| EIF2AK4 | Pulmonary venoocclusive disease |
| ENG | Hereditary hemorrhagic telangiectasia, Juvenile polyposis syndrome |
| FOXF1 | Alveolar capillary dysplasia with misalignment of pulmonary veins |
| KCNA5 | Atrial fibrillation |
| KCNK3 | Pulmonary artery hypertension |
| RASA1 | Capillary malformation-arteriovenous malformation, Parkes Weber syndrome, Spinal arteriovenous anomalies |
| SMAD4 | Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal |
| TBX4 |
Panel de Miocardiopatía
| A2ML1 | Noonan syndrome |
| AARS2 | Leukoencephalopathy, progressive, with ovarian failure |
| ABCC9 | Atrial fibrillation, Cantu syndrome, Dilated cardiomyopathy (DCM) |
| ACAD9 | Acyl-CoA dehydrogenase family, deficiency |
| ACADVL | Acyl-CoA dehydrogenase, very long chain, deficiency |
| ACTA1 | Myopathy |
| ACTC1 | Atrial septal defect, Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction |
| ACTN2 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| AGK | Sengers syndrome |
| AGL | Glycogen storage disease |
| ALPK3 | Pediatric cardiomyopathy |
| ANKRD1 | Familial dilated cardiomyopathy |
| ANO5 | Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular dystrophies |
| APOA1 | Amyloidosis, systemic nonneuronopathic, Hypoalphalipoproteinemia |
| BAG3 | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| BRAF | Cardiofaciocutaneous syndrome, LEOPARD syndrome, Noonan syndrome |
| CAPN3 | Eosinophilic myositis, Muscular dystrophy, limb-girdle |
| CASQ2 | Ventricular tachycardia, catecholaminergic, polymorphic |
| CAV3 | Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome |
| CBL | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia |
| CHKB | Muscular dystrophy, congenital, megaconial |
| COX15 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Leigh syndrome |
| CPT1A | Carnitine palmitoyltransferase deficiency |
| CPT2 | Carnitine palmitoyltransferase II deficiency |
| CRYAB | Cataract, myofibrillar myopathy and cardiomyopathy, Congenital cataract and cardiomyopathy, Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| CSRP3 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| CTNNA3 | Arrhythmogenic right ventricular dysplasia |
| DAG1 | Muscular dystrophy-dystroglycanopathy |
| DBH | Dopamine beta-hydroxylase deficiency |
| DES | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| DMD | Becker muscular dystrophy, Dilated cardiomyopathy (DCM), Duchenne muscular dystrophy |
| DNAJC19 | 3-methylglutaconic aciduria |
| DSC2 | Arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair |
| DSG2 | Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM) |
| DSP | Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis |
| DYSF | Miyoshi muscular dystrophy, Muscular dystrophy, limb-girdle, Myopathy, distal, with anterior tibial onset |
| EMD | Emery-Dreifuss muscular dystrophy |
| ETFA | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
| ETFB | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
| ETFDH | Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency |
| EYA4 | Dilated cardiomyopathy (DCM) |
| FBXO32 | Dilated cardiomyopathy (DCM) |
| FHL1 | Emery-Dreifuss muscular dystrophy, Myopathy with postural muscle atrophy, Reducing bod myopathy |
| FKRP | Muscular dystrophy-dystroglycanopathy |
| FKTN | Dilated cardiomyopathy (DCM), Muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (limb-girdle) |
| FLNC | Myopathy |
| FOXRED1 | Leigh syndrome, Mitochondrial complex I deficiency |
| FXN | Friedreich ataxia |
| GAA | Glycogen storage disease |
| GATAD1 | Dilated cardiomyopathy (DCM) |
| GBE1 | Glycogen storage disease |
| GFM1 | Combined oxidative phosphorylation deficiency |
| GLA | Fabry disease |
| GLB1 | GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome) |
| GMPPB | Limb-girdle muscular dystrophy-dystroglycanopathy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| GNE | Inclusion body myopathy, Nonaka myopathy, Sialuria |
| GUSB | Mucopolysaccharidosis |
| HCN4 | Brugada syndrome, Sick sinus syndrome |
| HFE | Hemochromatosis |
| HRAS | Congenital myopathy with excess of muscle spindles, Costello syndrome |
| ISPD | Muscular dystrophy-dystroglycanopathy |
| JPH2 | Hypertrophic cardiomyopathy (HCM) |
| JUP | Arrhythmogenic right ventricular dysplasia, Naxos disease |
| KRAS | Cardiofaciocutaneous syndrome, Noonan syndrome |
| LAMA2 | Muscular dystrophy, congenital merosin-deficient, Schizophrenia |
| LAMP2 | Danon disease |
| LARGE | Muscular dystrophy-dystroglycanopathy |
| LDB3 | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| LMNA | Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type |
| LZTR1 | Noonan syndrome, Schwannomatosis |
| MAP2K1 | Cardiofaciocutaneous syndrome |
| MAP2K2 | Cardiofaciocutaneous syndrome |
| MTO1 | Combined oxidative phosphorylation deficiency |
| MYBPC3 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction |
| MYH6 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| MYH7 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage |
| MYL2 | Hypertrophic cardiomyopathy (HCM) |
| MYL3 | Hypertrophic cardiomyopathy (HCM) |
| MYOT | Myopathy, myofibrillar |
| MYPN | Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| NEXN | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| NF1 | Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome |
| NRAS | Noonan syndrome |
| NSUN2 | Dubowitz syndrome, Non-syndromic intellectual disability |
| PKP2 | Arrhythmogenic right ventricular dysplasia |
| PLEC | Epidermolysis bullosa, Muscular dystrophy, limb-girdle |
| PLEKHM2 | Dilated cardiomyopathy (DCM), left ventricular noncompaction |
| PLN | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| PNPLA2 | Neutral lipid storage disease with myopathy |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy |
| POMT1 | Muscular dystrophy-dystroglycanopathy |
| POMT2 | Muscular dystrophy-dystroglycanopathy |
| PRDM16 | Dilated cardiomyopathy (DCM), Left ventricular noncompaction |
| PRKAG2 | Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndrome |
| PTPN11 | LEOPARD syndrome, Metachondromatosis, Noonan syndrome |
| RAF1 | Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome |
| RASA2 | Noonan syndrome |
| RBM20 | Dilated cardiomyopathy (DCM) |
| RIT1 | Noonan syndrome |
| RRAS | Noonan-syndrome like phenotype |
| RYR2 | Arrhythmogenic right ventricular dysplasia, Ventricular tachycardia, catecholaminergic polymorphic |
| SCN5A | Atrial fibrillation, Brugada syndrome, Dilated cardiomyopathy (DCM), Heart block, nonprogressive, Heart block, progressive, Long QT syndrome, Sick sinus syndrome, Ventricular fibrillation |
| SCNN1B | Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism |
| SCNN1G | Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism |
| SCO2 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, Hypertrophic cardiomyopathy (HCM), Leigh syndrome, Myopia |
| SDHA | Dilated cardiomyopathy (DCM), Gastrointestinal stromal tumor, Leigh syndrome/Mitochondrial respiratory chain complex II deficiency, Paragangliomas |
| SELENON | Muscular dystrophy, rigid spine, Myopathy, congenital, with fiber- disproportion |
| SGCA | Muscular dystrophy, limb-girdle |
| SGCB | Muscular dystrophy, limb-girdle |
| SGCD | Dilated cardiomyopathy (DCM), Muscular dystrophy, limb-girdle |
| SGCG | Muscular dystrophy, limb-girdle |
| SHOC2 | Noonan-like syndrome with loose anagen hair |
| SLC22A5 | Carnitine deficiency, systemic primary |
| SLC25A4 | Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions |
| SLC25A20 | Carnitine-acylcarnitine translocase deficiency |
| SMCHD1 | Facioscapulohumeral muscular dystrophy |
| SOS1 | Noonan syndrome |
| SPRED1 | Legius syndrome |
| TAZ | 3-Methylglutaconic aciduria, (Barth syndrome) |
| TCAP | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Muscular dystrophy, limb-girdle |
| TGFB3 | Arrhythmogenic right ventricular dysplasia, Loeys-Dietz syndrome (Reinhoff syndrome) |
| TMEM43 | Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy |
| TMEM70 | Mitochondrial complex V (ATP synthase) deficiency |
| TNNC1 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| TNNI3 | Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| TNNT2 | Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction |
| TPM1 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| TRIM32 | Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle |
| TSFM | Combined oxidative phosphorylation deficiency |
| TTN | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| TTR | Amyloidosis, hereditary, transthyretin-related, Dystransthyretinemic hyperthyroxinemia |
| VCL | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| VCP | Amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease, Inclusion body myopathy with early-onset Paget disease |
| XK | McLeod syndrome |
Panel de Miocardiopatía Arritmogénica del Ventrículo Derecho
| CTNNA3 | Arrhythmogenic right ventricular dysplasia |
| DES | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| DSC2 | Arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair |
| DSG2 | Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM) |
| DSP | Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis |
| JUP | Arrhythmogenic right ventricular dysplasia, Naxos disease |
| LDB3 | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| LMNA | Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type |
| PKP2 | Arrhythmogenic right ventricular dysplasia |
| PLN | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| RYR2 | Arrhythmogenic right ventricular dysplasia, Ventricular tachycardia, catecholaminergic polymorphic |
| TGFB3 | Arrhythmogenic right ventricular dysplasia, Loeys-Dietz syndrome (Reinhoff syndrome) |
| TMEM43 | Arrhythmogenic right ventricular dysplasia, Emery-Dreifuss muscular dystrophy |
| TTN | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
Panel de Miocardiopatía Dilatada
| ABCC9 | Atrial fibrillation, Cantu syndrome, Dilated cardiomyopathy (DCM) |
| BAG3 | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| DES | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| DMD | Becker muscular dystrophy, Dilated cardiomyopathy (DCM), Duchenne muscular dystrophy |
| DSC2 | Arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair |
| DSG2 | Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM) |
| DSP | Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis |
| EMD | Emery-Dreifuss muscular dystrophy |
| FBXO32 | Dilated cardiomyopathy (DCM) |
| HCN4 | Brugada syndrome, Sick sinus syndrome |
| JUP | Arrhythmogenic right ventricular dysplasia, Naxos disease |
| LAMP2 | Danon disease |
| LMNA | Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type |
| MYBPC3 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction |
| MYH6 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| MYH7 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage |
| PKP2 | Arrhythmogenic right ventricular dysplasia |
| PLEKHM2 | Dilated cardiomyopathy (DCM), left ventricular noncompaction |
| PLN | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| RAF1 | Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome |
| RBM20 | Dilated cardiomyopathy (DCM) |
| SCN5A | Atrial fibrillation, Brugada syndrome, Dilated cardiomyopathy (DCM), Heart block, nonprogressive, Heart block, progressive, Long QT syndrome, Sick sinus syndrome, Ventricular fibrillation |
| TCAP | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Muscular dystrophy, limb-girdle |
| TNNT2 | Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction |
| TPM1 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| TTN | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| VCL | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
Panel de Miocardiopatía Hipertrófica
| ACTC1 | Atrial septal defect, Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction | |
| ACTN2 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) | |
| ALPK3 | Pediatric cardiomyopathy | |
| CSRP3 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) | |
| GAA | Glycogen storage disease | |
| GLA | Fabry disease | |
| JPH2 | Hypertrophic cardiomyopathy (HCM) | |
| LAMP2 | Danon disease | |
| MYBPC3 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction | |
| MYH7 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage | |
| MYL2 | Hypertrophic cardiomyopathy (HCM) | |
| MYL3 | Hypertrophic cardiomyopathy (HCM) | |
| PRKAG2 | Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndrome | |
| RAF1 | Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome | |
| SOS1 | Noonan syndrome | |
| TNNI3 | Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) | |
| TNNT2 | Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction | |
| TPM1 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) | |
| TTR | Amyloidosis, hereditary, transthyretin-related, Dystransthyretinemic hyperthyroxinemia | |
Panel de Miocardiopatía No Compactada del Ventrículo Izquierdo
| ABCC9 | Atrial fibrillation, Cantu syndrome, Dilated cardiomyopathy (DCM) |
| BAG3 | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| DES | Dilated cardiomyopathy (DCM), Myopathy, myofibrillar |
| DMD | Becker muscular dystrophy, Dilated cardiomyopathy (DCM), Duchenne muscular dystrophy |
| DSC2 | Arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia with palmoplantar keratoderma and woolly hair |
| DSG2 | Arrhythmogenic right ventricular dysplasia, Dilated cardiomyopathy (DCM) |
| DSP | Arrhythmogenic right ventricular dysplasia, familial, Cardiomyopathy, dilated, with wooly hair and keratoderma, Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis |
| EMD | Emery-Dreifuss muscular dystrophy |
| FBXO32 | Dilated cardiomyopathy (DCM) |
| HCN4 | Brugada syndrome, Sick sinus syndrome |
| JPH2 | Hypertrophic cardiomyopathy (HCM) |
| JUP | Arrhythmogenic right ventricular dysplasia, Naxos disease |
| LAMP2 | Danon disease |
| LMNA | Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type |
| MYBPC3 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction |
| MYH6 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| MYH7 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage |
| PKP2 | Arrhythmogenic right ventricular dysplasia |
| PLEKHM2 | Dilated cardiomyopathy (DCM), left ventricular noncompaction |
| PLN | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| RAF1 | Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome |
| RBM20 | Dilated cardiomyopathy (DCM) |
| RYR2 | Arrhythmogenic right ventricular dysplasia, Ventricular tachycardia, catecholaminergic polymorphic |
| SCN5A | Atrial fibrillation, Brugada syndrome, Dilated cardiomyopathy (DCM), Heart block, nonprogressive, Heart block, progressive, Long QT syndrome, Sick sinus syndrome, Ventricular fibrillation |
| TCAP | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Muscular dystrophy, limb-girdle |
| TNNT2 | Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Left ventricular noncompaction |
| TPM1 | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| TTN | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
| VCL | Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) |
Panel de Síndrome de Brugada
| CACNA1C | Brugada syndrome, Timothy syndrome |
| CACNB2 | Brugada syndrome |
| CAV3 | Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome |
| HCN4 | Brugada syndrome, Sick sinus syndrome |
| KCND3 | Brugada syndrome |
| KCNE3 | Brugada syndrome |
| KCNH2 | Long QT syndrome, Short QT syndrome |
| SCN1B | Atrial fibrillation, Brugada syndrome, Generalized epilepsy with febrile seizures plus |
| SCN3B | Atrial fibrillation, familial, Brugada syndrome |
| SCN5A | Atrial fibrillation, Brugada syndrome, Dilated cardiomyopathy (DCM), Heart block, nonprogressive, Heart block, progressive, Long QT syndrome, Sick sinus syndrome, Ventricular fibrillation |
| TRPM4 | Progressive familial heart block |
Panel de Síndrome de Ehlers-Danlos
| ABCC6 | Pseudoxanthoma elasticum |
| ADAMTS2 | Ehlers-Danlos syndrome |
| ALDH18A1 | Cutis laxa, Spastic paraplegia |
| ATP6V0A2 | Cutis laxa, Wrinkly skin syndrome |
| ATP7A | Menkes disease |
| CBS | Homocystinuria due to cystathionine beta-synthase deficiency |
| CHST14 | Ehlers-Danlos syndrome, musculocontractural |
| COL1A1 | Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| COL1A2 | Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| COL2A1 | Achondrogenesis type 2, Avascular necrosis of femoral head, Czech dysplasia, Epiphyseal dysplasia, with myopia and deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1 |
| COL3A1 | Ehlers-Danlos syndrome |
| COL5A1 | Ehlers-Danlos syndrome |
| COL5A2 | Ehlers-Danlos syndrome |
| COL9A1 | Multiple epiphyseal dysplasia type 6 (EDM6), Stickler syndrome recessive type |
| COL9A2 | Multiple epiphyseal dysplasia type 2 (EDM2), Stickler syndrome |
| COL11A1 | Fibrochondrogenesis, Marshall syndrome, Stickler syndrome type 2 |
| COL18A1 | Knobloch syndrome |
| EFEMP2 | Cutis laxa |
| ELN | Cutis laxa, Supravalvular aortic stenosis |
| FBLN5 | Cutis laxa, Macular degeneration, age-related |
| FBN1 | Acromicric dysplasia, Geleophysic dysplasia, MASS syndrome, Marfan syndrome, Shprintzen-Goldberg syndrome, Weill-Marchesani syndrome |
| FBN2 | Congenital contractural arachnodactyly (Beals syndrome) |
| FKBP14 | Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
| FLNA | Frontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects |
| PLOD1 | Ehlers-Danlos syndrome |
| PYCR1 | Cutis laxa AR type 2B |
| SLC39A13 | Spondylodysplastic Ehlers-Danlos syndrome |
| SMAD3 | Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome |
| TGFB2 | Loeys-Dietz syndrome |
| TGFBR1 | Loeys-Dietz syndrome |
| TGFBR2 | Loeys-Dietz syndrome |
| TNXB | Ehlers-Danlos syndrome |
| ZNF469 | Brittle cornea syndrome |
Panel de Síndrome de Liddle
| SCNN1B | Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism |
| SCNN1G | Bronchiectasis with or without elevated sweat chloride, Liddle syndrome, Pseudohypoaldosteronism |
Panel de Síndrome de Marfan
| ADAMTSL4 | Ectopia lentis, isolated |
| CBS | Homocystinuria due to cystathionine beta-synthase deficiency |
| COL1A1 | Caffey disease, Ehlers-Danlos syndrome, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| COL1A2 | Ehlers-Danlos syndrome, cardiac valvular form, Osteogenesis imperfecta type 1, Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 |
| COL2A1 | Achondrogenesis type 2, Avascular necrosis of femoral head, Czech dysplasia, Epiphyseal dysplasia, with myopia and deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1 |
| COL3A1 | Ehlers-Danlos syndrome |
| COL5A1 | Ehlers-Danlos syndrome |
| COL5A2 | Ehlers-Danlos syndrome |
| COL9A1 | Multiple epiphyseal dysplasia type 6 (EDM6), Stickler syndrome recessive type |
| COL9A2 | Multiple epiphyseal dysplasia type 2 (EDM2), Stickler syndrome |
| COL11A1 | Fibrochondrogenesis, Marshall syndrome, Stickler syndrome type 2 |
| COL18A1 | Knobloch syndrome |
| FBN1 | Acromicric dysplasia, Geleophysic dysplasia, MASS syndrome, Marfan syndrome, Shprintzen-Goldberg syndrome, Weill-Marchesani syndrome |
| FBN2 | Congenital contractural arachnodactyly (Beals syndrome) |
| MED12 | FG syndrome, Lujan-Fryns syndrome, Mental retardation, with Marfanoid habitus, Ohdo syndrome, Opitz-Kaveggia syndrome |
| PLOD1 | Ehlers-Danlos syndrome |
| SKI | Shprintzen-Goldberg syndrome |
| SLC2A10 | Arterial tortuosity syndrome |
| SMAD3 | Aneurysms-osteoarthritis syndrome, Loeys-Dietz syndrome |
| TGFB2 | Loeys-Dietz syndrome |
| TGFB3 | Arrhythmogenic right ventricular dysplasia, Loeys-Dietz syndrome (Reinhoff syndrome) |
| TGFBR1 | Loeys-Dietz syndrome |
| TGFBR2 | Loeys-Dietz syndrome |
| UPF3B | Mental retardation, syndromic |
| VCAN | Wagner disease |
Panel de Síndrome de Noonan
| A2ML1 | Noonan syndrome |
| BRAF | Cardiofaciocutaneous syndrome, LEOPARD syndrome, Noonan syndrome |
| CBL | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia |
| HRAS | Congenital myopathy with excess of muscle spindles, Costello syndrome |
| KRAS | Cardiofaciocutaneous syndrome, Noonan syndrome |
| LZTR1 | Noonan syndrome, Schwannomatosis |
| MAP2K1 | Cardiofaciocutaneous syndrome |
| MAP2K2 | Cardiofaciocutaneous syndrome |
| NF1 | Neurofibromatosis, Neurofibromatosis-Noonan syndrome, Watson syndrome |
| NRAS | Noonan syndrome |
| NSUN2 | Dubowitz syndrome, Non-syndromic intellectual disability |
| PTPN11 | LEOPARD syndrome, Metachondromatosis, Noonan syndrome |
| RAF1 | Dilated cardiomyopathy (DCM), LEOPARD syndrome, Noonan syndrome |
| RASA2 | Noonan syndrome |
| RIT1 | Noonan syndrome |
| RRAS | Noonan-syndrome like phenotype |
| SHOC2 | Noonan-like syndrome with loose anagen hair |
| SOS1 | Noonan syndrome |
| SPRED1 | Legius syndrome |
Panel de Síndrome de QT Corto
| CACNA1C | Brugada syndrome, Timothy syndrome |
| CACNB2 | Brugada syndrome |
| KCNH2 | Long QT syndrome, Short QT syndrome |
| KCNJ2 | Andersen syndrome, Atrial fibrillation, Long QT syndrome, Short QT syndrome |
| KCNQ1 | Atrial fibrillation, Jervell and Lange-Nielsen syndrome, Long QT syndrome, Short QT syndrome |
Panel de Síndrome de QT Largo
| AKAP9 | Long QT syndrome |
| ANK2 | Cardiac arrhythmia, Long QT syndrome |
| CACNA1C | Brugada syndrome, Timothy syndrome |
| CALM1 | Long QT syndrome, Recurrent cardiac arrest, infantile, Ventricular tachycardia, catecholaminergic polymorphic |
| CALM2 | Long QT syndrome |
| CALM3 | Catecholaminergic polymorphic ventricular tachycardia |
| CAV3 | Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome |
| KCNE1 | Jervell and Lange-Nielsen syndrome, Long QT syndrome |
| KCNE2 | Atrial fibrillation, familial, Long QT syndrome |
| KCNH2 | Long QT syndrome, Short QT syndrome |
| KCNJ2 | Andersen syndrome, Atrial fibrillation, Long QT syndrome, Short QT syndrome |
| KCNJ5 | Hyperaldosteronism, familial, Long QT syndrome |
| KCNQ1 | Atrial fibrillation, Jervell and Lange-Nielsen syndrome, Long QT syndrome, Short QT syndrome |
| NOS1AP | Romano-Ward syndrome |
| SCN5A | Atrial fibrillation, Brugada syndrome, Dilated cardiomyopathy (DCM), Heart block, nonprogressive, Heart block, progressive, Long QT syndrome, Sick sinus syndrome, Ventricular fibrillation |
Panel de Taquicardia Ventricular Polimórfica Catecolaminérgica
| CALM1 | Long QT syndrome, Recurrent cardiac arrest, infantile, Ventricular tachycardia, catecholaminergic polymorphic |
| CALM2 | Long QT syndrome |
| CALM3 | Catecholaminergic polymorphic ventricular tachycardia |
| CASQ2 | Ventricular tachycardia, catecholaminergic, polymorphic |
| KCNJ2 | Andersen syndrome, Atrial fibrillation, Long QT syndrome, Short QT syndrome |
| RYR2 | Arrhythmogenic right ventricular dysplasia, Ventricular tachycardia, catecholaminergic polymorphic |
| TRDN | Ventricular tachycardia, catecholaminergic polymorphic |
Panel de Telangiectasia Hemorrágica Hereditaria
| ACVRL1 | Hereditary hemorrhagic telangiectasia |
| ENG | Hereditary hemorrhagic telangiectasia, Juvenile polyposis syndrome |
| RASA1 | Capillary malformation-arteriovenous malformation, Parkes Weber syndrome, Spinal arteriovenous anomalies |
| SMAD4 | Hereditary hemorrhagic telangiectasia, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Myhre dysplasia, Polyposis, juvenile intestinal |
EXOMA
MICROARRAYS
ESTUDIOS DISPONIBLES:
- CADASIL
- Estudio de apolipoproteína E para enfermedad cardiovascular
- MTHFR
