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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®


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