Reference |
Disease |
|---|---|
| SEQ1116 | Smith-Lemli-Opitz syndrome |
| MLP1106 | Arteriovenous malformation |
| MLP1108 | Ehlers-Danlos syndrome |
| MLP1025 | Sotos syndrome |
| SEQ9691 | Wolfram Syndrome / Autosomal Dominant Deafness 6/14/38 |
| SEQ9701 | WPW syndrome |
| SEQ9661 | Werner syndrome |
| SEQ8001 | Sick sinus syndrome |
| SEQ9051 | Sotos syndrome |
| SEQ9055 | Sotos syndrome and related syndromes |
| SEQ8980 | Seckel syndrome |
| SEQ8701 | Shortened QT syndrome |
| SEQ8471 | Elastic Pseudoxanthoma |
| SEQ8421 | Prune Belly Syndrome |
| SEQ8335 | Polyarteritis nodosa / Sneddon syndrome |
| SEQ8181 | Parkes Weber syndrome |
| SEQ7771 | Opitz syndrome |
| SEQ7751 | Ohdo syndrome type SBBYS |
| SEQ7762 | Omenn syndrome |
| SEQ7763 | Omenn syndrome |
| SEQ7764 | Omenn syndrome |
| SEQ7536 | Noonan syndrome |
| SEQ7537 | Noonan syndrome |
| SEQ7541 | Noonan-like syndrome with deciduous anagen hair |
| SEQ7542 | Noonan-like syndrome with or without juvenile myelomonocytic leukemia |
| SEQ7531 | Rasopathies (Noonan Syndrome included) |
| SEQ7532 | Noonan syndrome |
| SEQ7533 | Noonan syndrome |
| SEQ7534 | Noonan syndrome |
| SEQ7535 | Noonan syndrome |
| SEQ7232 | Mucolipidosis |
| SEQ7233 | Mucolipidosis |
| SEQ7211 | Mowat-Wilson syndrome |
| SEQ7230 | Mucolipidosis type 4 |
| SEQ7231 | Mucolipidosis |
| SEQ7151 | Noncompaction cardiomyopathy |
| SEQ7158 | Myocadiopathies |
| SEQ7105 | Marshall-Smith syndrome |
| SEQ6991 | Loeys-Dietz syndrome |
| SEQ6993 | Loeys-Dietz syndrome |
| SEQ6994 | Glomuvenous malformations |
| SEQ7102 | Marfan syndrome |
| SEQ7104 | Marfan syndrome |
| SEQ6932 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 1 |
| SEQ6933 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 2 |
| SEQ6934 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 3 |
| SEQ6935 | Generalized Congenital Lipodystrophy (Berardinelli-Seip) type 4 |
| SEQ6911 | Familial Vascular Leukoencephalopathy |
| SEQ6841 | Leopard syndrome |
| SEQ6842 | sg Leopard syndrome |
| SEQ6601 | Kabuki syndrome |
| SEQ6602 | Kabuki syndrome |
| SEQ6121 | Holt-Oram syndrome |
| SEQ6131 | Homocystinuria due to cystathionine beta-synthase deficiency |
| SEQ6132 | Homocystinuria due to cystathionine beta-synthase deficiency |
| SEQ6055 | Familial hypertriglyceridemia |
| SEQ6061 | Benign familial hypobetalipoproteinemia |
| SEQ6041 | Type 1 hyperlipoproteinemia |
| SEQ6042 | Type 1 hyperlipoproteinemia |
| SEQ6045 | Hyperhomocysteinemia |
| SEQ6029 | Hyperhomocysteinemia |
| SEQ5991 | Familial hypercholesterolemia |
| SEQ5992 | Familial hypercholesterolemia |
| SEQ6001 | Autosomal recessive familial hypercholesterolemia |
| SEQ5965 | Hemochromatosis |
| SEQ5981 | Hydroletal Syndrome |
| SEQ5671 | GAPO syndrome |
| SEQ5651 | Galactosialidosis |
| SEQ5531 | Feingold syndrome |
| SEQ5427 | Floating-Harbor syndrome |
| SEQ5501 | Fabry disease |
| SEQ5265 | Tuberous sclerosis |
| SEQ5266 | Tuberous sclerosis |
| SEQ5267 | Tuberous sclerosis |
| SEQ5212 | Primary erythermalgia |
| SEQ5213 | Primary erythermalgia |
| SEQ5211 | Primary erythermalgia |
| SEQ5071 | Pulmonary veno-occlusive disease |
| SEQ5072 | Pulmonary veno-occlusive disease |
| SEQ5001 | Conductive heart disease (CCD) |
| SEQ4871 | Ehlers-Danlos type VIIC |
| SEQ4872 | Ehlers-Danlos syndrome Musculocontractural type |
| SEQ4866 | Ehlers-Danlos Syndrome Type III |
| SEQ4867 | Ehlers-Danlos Syndrome Type III |
| SEQ4868 | Ehlers-Danlos Syndrome Type III |
| SEQ4869 | Ehlers-Danlos Syndrome Type IV (vascular) |
| SEQ4870 | Ehlers-Danlos syndrome type VI |
| SEQ4861 | Ehlers-Danlos syndrome CLASSIC TYPE |
| SEQ4862 | Ehlers-Danlos syndrome |
| SEQ4863 | Ehlers-Danlos syndrome type I / type II (classic) |
| SEQ4864 | Ehlers-Danlos syndrome type I / type II (classic) |
| SEQ4865 | Ehlers-Danlos syndrome type I / type II (classic) |
| SEQ4611 | Radial ray Duane syndrome |
| SEQ4411 | Lymphedema distichiasis and cleft palate |
| SEQ4021 | Brain demyelination due to methionine adenosyltransferase deficiency |
| SEQ3841 | Mitochondrial trifunctional protein deficiency |
| SEQ3371 | Congenital Heart Defects |
| SEQ3081 | Costello syndrome |
| SEQ2821 | CHARGE syndrome |
| SEQ2841 | CHILD syndrome |
| SEQ2744 | Multiple Cavernomatosis |
| SEQ2761 | Char syndrome |
| SEQ2726 | Cardiomyopathy, cardiac structural abnormalities |
| SEQ2727 | Cardiomyopathy, Left Ventricular Noncompaction (LVNC) |
| SEQ2728 | Cardiomyopathy / Myopathy / Muscular dystrophy |
| SEQ2741 | Multiple cavernomatosis, mutation c.1363C> T gene KRIT1 |
| SEQ2742 | Multiple Cavernomatosis |
| SEQ2721 | Dilated cardiomyopathy (DCM) |
| SEQ2722 | Dilated cardiomyopathy with poor cardiac conduction |
| SEQ2723 | Hypertrophic cardiomyopathy (HCM) |
| SEQ2724 | Restrictive cardiomyopathy (RCM) |
| SEQ2725 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) |
| SEQ2661 | Camurati-Engelmann syndrome, syndrome |
| SEQ2681 | Canavan disease |
| SEQ2691 | Cantú syndrome |
| SEQ2711 | Cardio-facio-cutaneous syndrome |
| SEQ2643 | Calcinosis, tumor |
| SEQ2611 | CADASIL (Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) |
| SEQ2617 | CADASIL syndrome |
| SEQ2441 | Brugada syndrome |
| SEQ2442 | Brugada syndrome |
| SEQ2601 | C syndrome |
| SEQ2605 | Cerebral cavernomatosis |
| SEQ2327 | Blackfan-Diamond disease |
| SEQ2328 | Blackfan-Diamond disease |
| SEQ2329 | Blackfan-Diamond disease |
| SEQ2322 | Blackfan-Diamond disease |
| SEQ2323 | Blackfan-Diamond disease |
| SEQ2324 | Blackfan-Diamond disease |
| SEQ2325 | Blackfan-Diamond disease |
| SEQ2326 | Blackfan-Diamond disease |
| SEQ2321 | Blackfan-Diamond disease |
| SEQ2271 | Beals Syndrome (Congenital Contractural Arachnodactyly) |
| SEQ2281 | NIMSeq® sg SC CDKN1C gene. Beckwith-Wiedemann syndrome |
| SEQ2043 | Axenfeld-Riegeer syndrome type 3 |
| SEQ1821 | Hereditary arrhythmias |
| SEQ1837 | Ventricular arrhythmia |
| SEQ1761 | Thrombomodulin genetic abnormalities |
| SEQ1771 | Antley-Bixler syndrome |
| SEQ1781 | Apert syndrome, p.Ser252Trp and p.Pro253Arg mutations by FGFR2 gene sequencing |
| SEQ1697 | Familial thoracic aortic aneurysm type 8 |
| SEQ1661 | Thiamine-sensitive megaloblastic anemia syndrome |
| SEQ1691 | Familial Thoracic Aortic Aneurysm |
| SEQ1692 | Familial Thoracic Aortic Aneurysm |
| SEQ1693 | Familial Thoracic Aortic Aneurysm |
| SEQ1694 | Familial Thoracic Aortic Aneurysm |
| SEQ1601 | Andersen syndrome |
| SEQ1515 | Alport syndrome (X-linked) |
| SEQ1471 | Alpha-Thalassemia |
| SEQ1400 | Alagille Syndrome Type 1 |
| SEQ1402 | Alagille Syndrome Types 1 and 2 |
| SEQ1351 | Adams-Oliver syndrome |
| SEQ1352 | Adams-Oliver syndrome |
| SEQ1356 | Adams-Oliver syndrome |
| SEQ1267 | Mevalonic acidemia syndrome, porokeratosis 3, hyper-IgD syndrome |
| SEQ1271 | Propionic acidemia |
| SEQ1272 | Propionic acidemia |
| SEQ1079 | SC gene TNNI3. Isolated Familial Dilated Cardiomyopathy / Familial Isolated Restrictive Cardiomyopathy |
| SEQ1084 | Noonan syndrome |
| SEQ1075 | Arrhythmogenic Right Ventricular Dysplasia / Catecholaminergic Polymorphic Ventricular Tachycardia |
| SEQ1071 | Familial Hypercholesterolemia |
| SEQ1060 | Familial Pheochromocytoma |
| SEQ1013 | Mucocutaneous venous malformations / Congenital glaucoma |
| PRE7001 | Rasopathies (Noonan Syndrome included) |
| PRE7002 | Noonan syndrome / Noonan-like syndrome / Costello syndrome / Cardiofaciocutaneous syndrome / Legius syndrome |
| MLP3611 | Williams-Beuren syndrome |
| MLP3315 | Smith-Lemli-Opitz, syndrome of |
| MLP3321 | Smith-Magenis syndrome |
| MLP3331 | Sotos syndrome |
| MLP3311 | Simpson-Golabi-Behmel syndrome |
| MLP3031 | Pseudoxanthoma elasticum |
| MLP3101 | Resistance to insulin-like growth factor I |
| MLP2801 | Opitz syndrome |
| MLP2541 | Marfan syndrome |
| MLP2542 | Marfan syndrome |
| MLP2421 | Heart and limb malformations |
| MLP2441 | Loeys-Dietz syndrome |
| MLP2501 | Cerebral cavernous malformations |
| MLP2312 | Kallmann 2 syndrome |
| MLP2321 | Kleefstra syndrome |
| MLP2301 | Kabuki syndrome |
| MLP2111 | Hyperlipoproteinemia type I |
| MLP1831 | Tuberous sclerosis 1 |
| MLP1832 | Tuberous sclerosis 2 |
| MLP1870 | Fabry disease |
| MLP1801 | Ehlers-Danlos type III syndrome |
| MLP1802 | Ehlers Danlos type VI syndrome |
| MLP1651 | Mitochondrial DNA depletion Syndrome |
| MLP1631 | X-linked creatine transporter deficiency |
| MLP1445 | MLPA: Cavernomatosis cerebral |
| MLP1441 | Hereditarian diffuse gastric cancer |
| MLP1241 | Blackfan-Diamond disease |
| MLP1011 | Alagille syndrome type 1 |
| MIT1201 | Most common Mitochondrial Cardiopathies |
| MIT1202 | Mitochondrial Cardiopathies |
| EXN1167 | Lymphatic Malformations and Related Diseases |
| EXN1153 | Brugada syndrome |
| EXN1144 | VACTERL/VATER association and syndromes included in the differential diagnosis |
| EXN1111 | Pulmonary hypertension |
| EXN1097 | Congenital cardiopathies |
| EXN1098 | Connective tissue diseases |
| EXN1089 | Familial hypercholesterolemia |
| EXN1070 | Genetic disorders of the aorta (Aneurysm and Dissection) |
| EXN1059 | Amyloidosis |
| EXN1031 | Joint hypermobility |
| EXN1012 | RASopathies |
| SEQ references correspond to studies performed using NIMSeq® | |
| EXN references correspond to studies performed using ExoNIM® | |
To consult the genes associated with each approach and the complete catalog of services, go to our genetics test search tool
