Reference |
Disease |
|---|---|
| SEQ1396 | - |
| TRP1018 | Oculopharyngeal muscular dystrophy |
| TRP1017 | Spinocerebellar ataxia With neuropathy and bilateral vestibular areflexia (CANVAS) |
| MLP1742 | Miyoshi muscle disease |
| EXN1186 | Neurodevelopmental Disorder: Intellectual Disability and Autism Spectrum Disorder |
| SEQ1112 | Nemaline myopathy |
| SEQ1113 | Tay-Sachs disease |
| TRP1016 | ONDINE-HIRSCHSPRUNG disease |
| SEQ1107 | Mitochondrial depletion syndrome type 2 |
| SEQ1106 | Hereditary Amyloidosis |
| SEQ1093 | Early-onset epileptic encephalopathy type 27 |
| MLP1025 | Sotos syndrome |
| SEQ1105 | Phakomatosis |
| PRE7004 | Tuberous sclerosis |
| SEQ1092 | Phakomatosis |
| TRP1202 | Myotonic dystrophy type 2 / Proximal myotonic myopathy |
| TRP1401 | Hungtington's disease |
| TRP1406 | DENTATO-RUBRO-PALIDO-LUISIANA ATROPHY (DRPLA) |
| TRP1501 | Fragile X syndrome |
| TRP1011 | Spinocerebellar ataxia TYPE 36 (SCA36) |
| TRP1012 | Spinocerebellar Ataxia TYPES 1,2,3,6,7,10,12,17,31,36 (SCA1,2,3,6,7,10,12,17,31,36) |
| TRP1015 | Spinal and bulbar muscular atrophy/Kennedy's disease |
| TRP1101 | Friedreich Ataxia |
| TRP1201 | Myotonic dystrophy type I (STEINERT) |
| TRP1006 | Spinocerebellar ataxia TYPE 7 (SCA7) |
| TRP1007 | Spinocerebellar ataxia TYPE 10 (SCA10) |
| TRP1008 | Spinocerebellar ataxia TYPE 12 (SCA12 |
| TRP1009 | Spinocerebellar ataxia TYPE 17 (SCA17) |
| TRP1010 | Spinocerebellar ataxia TYPE 31 (SCA31) |
| TRP1001 | Spinocerebellar ataxia TYPES 1,2,3,6,7 (SCA1,2,3,6,7) |
| TRP1002 | Spinocerebellar ataxia TYPE 1 (SCA1) |
| TRP1003 | Spinocerebellar ataxia TYPE 2 (SCA2) |
| TRP1004 | Spinocerebellar ataxia TYPE 3 (SCA3) |
| TRP1005 | Spinocerebellar ataxia TYPE 6 (SCA6) |
| SEQ1100 | Stickler syndrome |
| SEQ1095 | Bardet-Biedl syndrome |
| SEQ1097 | Joubert syndrome |
| SEQ9691 | Wolfram Syndrome / Autosomal Dominant Deafness 6/14/38 |
| SEQ9380 | Von Hippel Lindau |
| SEQ9655 | Weaver syndrome |
| SEQ9681 | Wilson disease |
| SEQ9317 | Thrombophilia |
| SEQ9320 | Prothrombin |
| SEQ9011 | Simpson-Golabi-Behmel syndrome type 1 |
| SEQ9020 | Smith-Kingsmore syndrome / Focal cortical dysplasia, type II |
| SEQ9051 | Sotos syndrome |
| SEQ8930 | Robinow syndrome |
| SEQ8951 | Rubinstein-Taybi syndrome |
| SEQ8960 | Rubinstein-Taybi syndrome |
| SEQ8971 | Schaaf-Yang syndrome |
| SEQ8915 | Caudal regression, syndrome |
| SEQ8492 | Pterygium Syndrome (Lethal Forms) |
| SEQ8493 | Pterygium Syndrome (Lethal Forms) |
| SEQ8910 | Retinoblastoma (hotspots) |
| SEQ8461 | Pseudohypoparathyroidism |
| SEQ8491 | Pterygium Syndrome (Lethal Forms) |
| SEQ8401 | Proteus syndrome |
| SEQ8341 | Acute Intermittent Porphyria |
| SEQ8343 | Polymicrogyria |
| SEQ8335 | Polyarteritis nodosa / Sneddon syndrome |
| SEQ8321 | Pierson's syndrome |
| SEQ8331 | Pitt-Hopkins syndrome |
| SEQ8251 | Perlman's syndrome |
| SEQ8271 | Peters-plus syndrome |
| SEQ8222 | Parrault syndrome |
| SEQ8232 | Pelizaeus disease - Merzbacher |
| SEQ8195 | Parkinson's disease 7 |
| SEQ8196 | Parkinson's disease 8 |
| SEQ8197 | Parkinson's disease 9 |
| SEQ8198 | Parkinson's disease 14 |
| SEQ8211 | Parrault syndrome type 3 |
| SEQ8165 | Familial Spastic Paraplegia 39 |
| SEQ8166 | Familial Spastic Paraplegia 73 |
| SEQ8191 | Parkinson's disease 1 |
| SEQ8192 | Parkinson's disease 2 |
| SEQ8194 | Parkinson's disease 6 |
| SEQ8158 | Familial Spastic Paraplegia 10 |
| SEQ8159 | Familial Spastic Paraplegia 11 |
| SEQ8160 | Familial spastic paraplegia 12 |
| SEQ8162 | Familial spastic paraplegia 15 |
| SEQ8163 | Familial Spastic Paraplegia 31 |
| SEQ8164 | Familial Spastic Paraplegia 35 |
| SEQ8153 | Familial Spastic Paraplegia 4 |
| SEQ8154 | Familial Spastic Paraplegia 5A |
| SEQ8155 | Familial Spastic Paraplegia 6 |
| SEQ8156 | Familial Spastic Paraplegia 7 |
| SEQ8157 | Familial Spastic Paraplegia 8 |
| SEQ8132 | Familial Hypokalemic Periodic Paralysis |
| SEQ8133 | Familial Hypokalemic Periodic Paralysis |
| SEQ8141 | Autosomal recessive spastic paraplegia type 30 |
| SEQ8142 | Autosomal recessive spastic paraplegia type 48 |
| SEQ8151 | Familial Spastic Paraplegia 2 (SPG2) |
| SEQ8152 | Familial Spastic Paraplegia 3A |
| SEQ8101 | Papillon-Lefevre syndrome |
| SEQ8111 | Horizontal gaze palsy with progressive scoliosis |
| SEQ8121 | Hyperkalemic Periodic Paralysis |
| SEQ8131 | Hypokalemic Periodic Paralysis |
| SEQ7851 | Oto-palato-digital syndrome type 2 |
| SEQ7771 | Opitz syndrome |
| SEQ7781 | Opitz-Kaveggia syndrome |
| SEQ7751 | Ohdo syndrome type SBBYS |
| SEQ7721 | Progressive external ophthalmoplegia |
| SEQ7731 | Autosomal dominant progressive external ophthalmoplegia |
| SEQ7732 | Autosomal dominant progressive external ophthalmoplegia |
| SEQ7558 | Central nucleus disease |
| SEQ7531 | Rasopathies (Noonan Syndrome included) |
| SEQ7503 | Niemann-Pick disease (type C1 and D) |
| SEQ7504 | Niemann-Pick disease (type C2) |
| SEQ7505 | Niemann-Pick disease (types C and D) |
| SEQ7511 | Nijmegen syndrome |
| SEQ7512 | Nijmegen syndrome |
| SEQ7481 | Hereditary sensory and autonomic neuropathy type 1C |
| SEQ7482 | Hereditary sensory and autonomic neuropathy type 5 |
| SEQ7491 | Neuropathy, giant axonal |
| SEQ7501 | Niemann-Pick disease |
| SEQ7502 | Niemann-Pick disease (Type A and B) |
| SEQ7421 | Neurofibromatosis-like syndromes |
| SEQ7423 | Neurofibromatosis type 2 |
| SEQ7441 | Small fiber neuropathy linked to sodium channelopathies |
| SEQ7451 | Hereditary distal motor neuropathy type 5 |
| SEQ7461 | Hereditary Pressure Sensitivity Neuropathy (HNPP) |
| SEQ7411 | Nasu-Hakola disease |
| SEQ7412 | Nasu-Hakola disease |
| SEQ7413 | Nasu-Hakola disease / Polycystic lipomembranous osteodysplasia with sclerotic leukoencephalopathy |
| SEQ7232 | Mucolipidosis |
| SEQ7233 | Mucolipidosis |
| SEQ7201 | Myotillinopathy |
| SEQ7208 | Myotonia congenita |
| SEQ7211 | Mowat-Wilson syndrome |
| SEQ7230 | Mucolipidosis type 4 |
| SEQ7231 | Mucolipidosis |
| SEQ7167 | Brody myopathy |
| SEQ7171 | Miyoshi myopathy |
| SEQ7191 | Bethlem type 1 myopathy |
| SEQ7192 | Bethlem type 1 myopathy |
| SEQ7193 | Bethlem type 1 myopathy |
| SEQ7194 | Bethlem type 1 myopathy |
| SEQ7161 | Congenital myotubular myopathy |
| SEQ7105 | Marshall-Smith syndrome |
| SEQ7121 | MENKES syndrome |
| SEQ7125 | Meckel syndrome |
| SEQ7131 | Congenital myasthenia |
| SEQ7132 | Congenital myasthenia |
| SEQ6985 | Lissencephaly |
| SEQ6959 | Neuronal ceroid lipofuscinosis |
| SEQ6960 | Neuronal ceroid lipofuscinosis |
| SEQ6971 | Lissencephaly |
| SEQ6972 | Lissencephaly |
| SEQ6982 | X-linked lissencephaly |
| SEQ6952 | Neuronal ceroid lipofuscinosis |
| SEQ6953 | Neuronal ceroid lipofuscinosis |
| SEQ6954 | Neuronal ceroid lipofuscinosis |
| SEQ6955 | Neuronal ceroid lipofuscinosis |
| SEQ6956 | Neuronal ceroid lipofuscinosis |
| SEQ6957 | Neuronal ceroid lipofuscinosis |
| SEQ6958 | Neuronal ceroid lipofuscinosis |
| 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 |
| SEQ6901 | Diffuse leukoencephalopathy with spherosis |
| SEQ6911 | Familial Vascular Leukoencephalopathy |
| SEQ6841 | Leopard syndrome |
| SEQ6842 | sg Leopard syndrome |
| SEQ6861 | Metachromatic leukodystrophy |
| SEQ6871 | Leukoencephalopathy - ataxia - hypodontia - hypomyelination |
| SEQ6881 | Leukoencephalopathy - dystonia - motor neuropathy |
| SEQ6891 | Brainstem and Spinal Cord Associated Leukoencephalopathy with Elevated Lactate |
| SEQ6802 | Lafora disease |
| SEQ6803 | Lafora disease |
| SEQ6831 | Legius syndrome (Neurofibromatosis Type 1-like) |
| SEQ6621 | Krabbe disease |
| SEQ6509 | Joubert syndrome type 9 |
| SEQ6601 | Kabuki syndrome |
| SEQ6602 | Kabuki syndrome |
| SEQ6606 | Kabuki syndrome |
| SEQ6503 | JJoubert syndrome type 3 |
| SEQ6504 | Joubert syndrome type 4 |
| SEQ6505 | Joubert syndrome type 5 |
| SEQ6506 | Joubert syndrome type 6 |
| SEQ6508 | Joubert syndrome type 8 |
| SEQ6301 | Joubert syndrome type 10 |
| SEQ6302 | Joubert Syndrome Type 12 |
| SEQ6303 | Joubert syndrome type 1 |
| SEQ6502 | Joubert syndrome type 2 |
| SEQ6115 | Holoprosencephaly |
| SEQ6131 | Homocystinuria due to cystathionine beta-synthase deficiency |
| SEQ6132 | Homocystinuria due to cystathionine beta-synthase deficiency |
| SEQ6106 | Holoprosencephaly |
| SEQ6108 | Holoprosencephaly |
| SEQ6110 | Holoprosencephaly |
| SEQ6111 | Holoprosencephaly |
| SEQ6113 | Holoprosencephaly |
| SEQ6114 | Holoprosencephaly |
| SEQ6101 | Holoprosencephaly |
| SEQ6102 | Holoprosencephaly |
| SEQ6103 | Holoprosencephaly |
| SEQ6104 | Holoprosencephaly |
| SEQ6105 | Holoprosencephaly |
| SEQ6051 | Type II hyperprolinemia |
| SEQ6045 | Hyperhomocysteinemia |
| SEQ6013 | Hyperekplexia syndrome or Exaggerated Startle syndrome |
| SEQ6022 | Hyperphenylalaninemia due to BH4 deficiency |
| SEQ6029 | Hyperhomocysteinemia |
| SEQ6011 | Hyperekplexia syndrome or Exaggerated Startle syndrome |
| SEQ6012 | Hyperekplexia syndrome or Exaggerated Startle syndrome |
| SEQ5951 | Periventricular nodular heterotopia |
| SEQ5961 | X-linked periventricular heterotopia |
| SEQ5968 | Hydranencephaly / Microlissencephaly |
| SEQ5971 | X-linked hydrocephalus |
| SEQ5911 | Alternating hemiplegia of childhood TYPE 1 |
| SEQ5912 | Alternating hemiplegia of childhood TYPE 2 |
| SEQ5671 | GAPO syndrome |
| SEQ5661 | GM1 gangliosidosis type 1 |
| SEQ5531 | Feingold syndrome |
| SEQ5551 | Fibrodysplasia ossificans progressiva |
| SEQ5561 | Fibrodysplasia ossificans progressiva |
| SEQ5581 | TYPE 3 congenital fibrosis of extraocular muscles |
| SEQ5427 | Floating-Harbor syndrome |
| SEQ5501 | Fabry disease |
| SEQ5262 | Amyotrophic lateral sclerosis type 11 |
| SEQ5263 | Amyotrophic lateral sclerosis type 15 |
| SEQ5264 | Amyotrophic lateral sclerosis type 2 |
| SEQ5265 | Tuberous sclerosis |
| SEQ5266 | Tuberous sclerosis |
| SEQ5267 | Tuberous sclerosis |
| SEQ5251 | Amyotrophic Lateral Sclerosis |
| SEQ5253 | Amyotrophic Lateral Sclerosis |
| SEQ5254 | Amyotrophic Lateral Sclerosis |
| TRP1019 | Amyotrophic Lateral Sclerosis |
| SEQ5256 | Amyotrophic Lateral Sclerosis |
| SEQ5261 | Amyotrophic lateral sclerosis type 11 |
| SEQ5212 | Primary erythermalgia |
| SEQ5213 | Primary erythermalgia |
| SEQ5181 | Juvenile myoclonic epilepsy |
| SEQ5182 | Juvenile myoclonic epilepsy |
| SEQ5191 | Progressive myoclonic epilepsy type 3 |
| SEQ5201 | Familial Benign Neonatal Epilepsy |
| SEQ5202 | Familial Benign Neonatal Epilepsy |
| SEQ5211 | Primary erythermalgia |
| SEQ5154 | Autosomal Dominant Nocturnal Frontal Epilepsy |
| SEQ5155 | Autosomal Dominant Nocturnal Frontal Epilepsy |
| SEQ5161 | Generalized Epilepsy with Febrile Seizures Plus (GEFS) |
| SEQ5162 | Generalized Epilepsy with Febrile Seizures Plus (GEFS) |
| SEQ5164 | Generalized Epilepsy with Febrile Seizures Plus (GEFS) |
| SEQ5171 | Lateral temporal lobe epilepsy, autosomal dominant |
| SEQ5139 | Focal epilepsy with language disorder |
| SEQ5141 | Familial focal epilepsy with variable foci |
| SEQ5151 | Autosomal Dominant Nocturnal Frontal Epilepsy |
| SEQ5152 | Autosomal Dominant Nocturnal Frontal Epilepsy |
| SEQ5153 | Autosomal Dominant Nocturnal Frontal Epilepsy |
| SEQ5121 | Simple Epidermolysis Bullosa with Muscular Dystrophy |
| SEQ5131 | Pyridoxine Dependent Epilepsy |
| SEQ5132 | Pyridoxine Dependent Epilepsy |
| SEQ5021 | Myopathies |
| SEQ5031 | Basal ganglia disease responsive to biotin |
| SEQ5041 | Muscle-eye-brain disease |
| SEQ5051 | Neutral lipid accumulation disease with myopathy without ichthyosis |
| SEQ4982 | Glycine encephalopathy / Nonketotic hyperglycemia |
| SEQ4983 | Glycine encephalopathy / Nonketotic hyperglycemia |
| SEQ4984 | Glycine encephalopathy / Nonketotic hyperglycemia |
| SEQ4991 | Neurodegenerative spongiform encephalopathies |
| SEQ4961 | Early infantile epileptic encephalopathy |
| SEQ4962 | Early infantile epileptic encephalopathy |
| SEQ4963 | Early infantile epileptic encephalopathy |
| SEQ4964 | Early Childhood Epileptic Encephalopathy 9 (Dravet like, EIEE) |
| SEQ4971 | Ethylmalonic encephalopathy |
| SEQ4981 | Glycine encephalopathy / Nonketotic hyperglycemia |
| SEQ4942 | Evanescent White Substance Encephalopathy |
| SEQ4943 | Evanescent White Substance Encephalopathy |
| SEQ4944 | Evanescent White Substance Encephalopathy |
| SEQ4945 | Evanescent White Substance Encephalopathy |
| SEQ4946 | Evanescent White Substance Encephalopathy |
| SEQ4951 | Encephalopathy due to a deficiency of prosaposin |
| SEQ4922 | Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) |
| SEQ4923 | Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) |
| SEQ4931 | Acute familial necrotizing encephalopathy |
| SEQ4940 | Evanescent White Substance Encephalopathy |
| SEQ4941 | Evanescent White Substance Encephalopathy, p.Arg113His mutation by EIF2B5 gene sequencing |
| SEQ4911 | Childhood epileptic encephalopathy type 5 |
| SEQ4913 | Early-onset childhood epileptic encephalopathy |
| SEQ4921 | Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) |
| SEQ4598 | Donnai-Barrow syndrome |
| SEQ4601 | Dravet syndrome (Severe myoclonic epilepsy of childhood) |
| SEQ4561 | Childhood Neuroaxonal Dystrophy |
| SEQ4552 | X-linked Emery Dreifuss muscular dystrophy |
| SEQ4553 | X-linked Emery Dreifuss muscular dystrophy |
| SEQ4554 | Facioscapulohumeral muscular dystrophy FSHD1 |
| SEQ4555 | Facioscapulohumeral muscular dystrophy FSHD2 |
| SEQ4527 | Girdle muscular dystrophy type 2P |
| SEQ4528 | Girdle Muscular Dystrophy type 5C |
| SEQ4529 | Girdle Muscular Dystrophy-Dystroglycanpathy type A2, B2 and C2 |
| SEQ4541 | Duchenne-Becker Muscular Dystrophy |
| SEQ4551 | Autosomal Dominant Emery Dreifuss muscular dystrophy |
| SEQ4522 | Girdle muscular dystrophy type 2G |
| SEQ4523 | Girdle muscular dystrophy type 2H |
| SEQ4524 | Girdle Muscular Dystrophy type 2I / 5C, p.Leu276Ile mutation by FKRP gene sequencing |
| SEQ4525 | Girdle muscular dystrophy type 2L |
| SEQ4526 | Girdle muscular dystrophy type 2M / 4C |
| SEQ4518 | Girdle Muscular Dystrophy type 2C |
| SEQ4519 | Girdle Muscular Dystrophy type 2D |
| SEQ4520 | Girdle Muscular Dystrophy type 2E |
| SEQ4521 | Girdle Muscular Dystrophy type 2F |
| SEQ4513 | Girdle muscular dystrophy type 1C |
| SEQ4514 | Girdle muscular dystrophy type 1D / 2R |
| SEQ4515 | Girdle muscular dystrophy type 1F |
| SEQ4516 | Girdle Muscular Dystrophy type 2A (Calpainopathy) |
| SEQ4517 | Girdle Muscular Dystrophy type 2B |
| SEQ4503 | Ullrich congenital muscular dystrophy |
| SEQ4504 | Ullrich congenital muscular dystrophy |
| SEQ4505 | Retractile myopathies |
| SEQ4511 | Girdle Muscular Dystrophy type 1A |
| SEQ4512 | Girdle muscular dystrophy type 1B |
| SEQ4501 | Congenital Muscular Dystrophy with Merosin Deficiency |
| SEQ4502 | Ullrich congenital muscular dystrophy |
| SEQ4440 | Facial dysstasis |
| SEQ4429 | Myoclonic dystonia |
| SEQ4430 | Dystonia type 12 |
| SEQ4431 | Dystonia type 16 |
| SEQ4432 | DOPA-sensitive dystonia with or without hyperphenylalaninemia |
| SEQ4433 | Dystonia type 6 |
| SEQ4434 | Dystonia Type 9 |
| SEQ4421 | Autosomal Dominant Cervical Dystonia |
| SEQ4422 | Dystonia responding to dopa due to sepiapterin reductase deficiency |
| SEQ4424 | Torsional Dystonia |
| SEQ4425 | Torsional Dystonia |
| SEQ4426 | Dopa-sensitive, autosomal recessive dystonia (Segawa syndrome) |
| SEQ4427 | Myoclonic dystonia, mutation c.835_839delACAAA gene SGCE |
| SEQ4401 | Kinesigenic Paroxysmal Dyskinesia (PKD) |
| SEQ4402 | Kinesigenic Paroxysmal Dyskinesia (PKD) |
| SEQ4404 | Paroxysmal nonkinesigenic dyskinesia |
| SEQ4231 | Complex cortical dysplasia with other brain malformations |
| SEQ4131 | Familial dysautonomia (Riley-Day syndrome), mutation c.2204 6T> C gene IKBKAP |
| SEQ4132 | Familial dysautonomia (Riley-Day syndrome) |
| SEQ4011 | Desbuquois syndrome |
| SEQ4015 | Acral skin scaling, syndrome |
| SEQ4021 | Brain demyelination due to methionine adenosyltransferase deficiency |
| SEQ4001 | Dentinogenesis imperfecta, Shields type 2 |
| SEQ3962 | Dejerine-Sottas syndrome |
| SEQ3971 | Frontotemporal dementia with motor neuron disease |
| SEQ3972 | Frontotemporal dementia with amyotrophic lateral sclerosis |
| SEQ3974 | Frontotemporal dementias |
| SEQ3975 | Frontotemporal dementias |
| SEQ3921 | Autosomal dominant nonsyndromic intellectual deficit |
| SEQ3931 | Severe intellectual deficit and progressive spastic paraplegia |
| SEQ3941 | X-linked intellectual deficit - cerebellar hypoplasia |
| SEQ3951 | Partial methylmalonyl-CoA mutase deficiency, mutation c.322C> T gene MUT |
| SEQ3841 | Mitochondrial trifunctional protein deficiency |
| SEQ3851 | Succinic semialdehyde dehydrogenase deficiency |
| SEQ3801 | Ornithine Carbamyl Transferase Deficiency |
| SEQ3811 | Pyruvate carboxylase deficiency |
| SEQ3821 | Pyruvate dehydrogenase E1-alpha deficiency |
| SEQ3781 | Creatinine deficiency |
| SEQ3721 | Phosphoenolpyruvate Carboxykinase Deficiency |
| SEQ3731 | Fructose-1,6 diphosphatase deficiency |
| SEQ3741 | Galactokinase deficiency |
| SEQ3751 | Galactose epimerase deficiency |
| SEQ3771 | Glutathione synthetase deficiency |
| SEQ3691 | CoA-dehydrogenase deficiency (Acidemi isobutyric) |
| SEQ3711 | Bifunctional enzyme deficiency |
| SEQ3571 | Mitochondrial complex IV deficiency |
| SEQ3581 | Glucose transporter type 1 deficiency |
| SEQ3511 | ACYL-CoA dehydrogenase deficiency |
| SEQ3531 | Purine nucleoside phosphorylase deficiency |
| SEQ3461 | Biotinidase deficiency |
| SEQ3501 | Dihydropyrimidine dehydrogenase deficiency (5-Fluorouracil toxicity) |
| SEQ3123 | Crigler-Najjar syndrome |
| SEQ3064 | Cornelia de Lange syndrome |
| SEQ3041 | Familial benign chorea |
| SEQ3051 | Coreoacanthocytosis (Neuroacanthocytosis) |
| SEQ3061 | Cornelia de Lange syndrome |
| SEQ3062 | Cornelia de Lange syndrome |
| SEQ3063 | Cornelia de Lange syndrome |
| SEQ3021 | Benign familial neonatal-infantile seizures |
| SEQ3022 | Benign familial neonatal-infantile seizures |
| SEQ3023 | Benign familial neonatal-infantile seizures |
| SEQ3024 | Benign familial neonatal-infantile seizures |
| SEQ3031 | Hereditary coproporphyria |
| SEQ3011 | Lethal congenital contractures syndrome type 1 |
| SEQ2941 | Cohen syndrome, c.3348_3349delCT mutation VPS13B gene |
| SEQ2942 | Cohen syndrome |
| SEQ2921 | Cockayne syndrome |
| SEQ2922 | Cockayne syndrome |
| SEQ2923 | Cockayne syndrome |
| SEQ2931 | Coffin-Lowry syndrome |
| SEQ2891 | Citrullinemia |
| SEQ2892 | Classic citrullinemia |
| SEQ2893 | Late-onset citrullinemia type II |
| SEQ2901 | CK syndrome |
| SEQ2851 | Chudley-McCullough syndrome |
| SEQ2861 | Cinca Syndrome (Childhood Multisystemic Inflammatory Disease) |
| SEQ2805 | Charcot-Marie-Tooth X-linked type 5 |
| SEQ2831 | Chediak-Higashi syndrome |
| SEQ2841 | CHILD syndrome |
| SEQ2799 | Charcot-Marie-Tooth type 4G, mutation g.13712G> C gene HK1 |
| SEQ2800 | Charcot-Marie-Tooth type 4G |
| SEQ2801 | Charcot-Marie-Tooth type 4J, mutation c.122T> C (p.Ile41Thr) gene FIG4 |
| SEQ2802 | Charcot-Marie-Tooth type 4J, mutation c.122T> C (p.Ile41Thr) gene FIG4 |
| SEQ2803 | Charcot-Marie-Tooth intermediate dominant B |
| SEQ2804 | X-linked Charcot-Marie-Tooth |
| SEQ2791 | Charcot-Marie-Tooth type 4B2 |
| SEQ2792 | Charcot-Marie-Tooth type 4C |
| SEQ2793 | Charcot-Marie-Tooth type 4D, mutation p.Arg148Stp (Lom) NDRG1 gene |
| SEQ2794 | Charcot-Marie-Tooth type 4D, mutation p.Arg148Stp (Lom) NDRG1 gene |
| SEQ2798 | Charcot-Marie-Tooth type 4F |
| SEQ2784 | Charcot-Marie-Tooth type 2F |
| SEQ2786 | Charcot-Marie-Tooth type 2K |
| SEQ2787 | Charcot-Marie-Tooth type 2L |
| SEQ2788 | Charcot-Marie-Tooth type 2N |
| SEQ2790 | Charcot-Marie-Tooth type 4B1 |
| SEQ2778 | Charcot-Marie-Tooth type 2A2 |
| SEQ2779 | Charcot-Marie-Tooth type 2B |
| SEQ2780 | Charcot-Marie-Tooth type 2B1 |
| SEQ2781 | Charcot-Marie-Tooth type 2C |
| SEQ2782 | Charcot-Marie-Tooth type 2D |
| SEQ2773 | Charcot-Marie-Tooth type 1C |
| SEQ2774 | Charcot-Marie-Tooth type 1D |
| SEQ2775 | Charcot-Marie-Tooth type 1F |
| SEQ2776 | Charcot-Marie-Tooth type 20 |
| SEQ2777 | Charcot-Marie-Tooth type 2A1 |
| SEQ2744 | Multiple Cavernomatosis |
| SEQ2771 | Charcot-Marie-Tooth type 1A |
| 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 |
| SEQ2671 | Cardiac channelopathies |
| SEQ2681 | Canavan disease |
| SEQ2633 | Bilateral striatum-pale-dentate calcinosis |
| SEQ2611 | CADASIL (Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) |
| SEQ2617 | CADASIL syndrome |
| SEQ2631 | Bilateral striatum-pale-dentate calcinosis |
| SEQ2632 | Bilateral striatum-pale-dentate calcinosis |
| SEQ2601 | C syndrome |
| SEQ2605 | Cerebral cavernomatosis |
| SEQ2405 | Brachydactyly mental retardation syndrome |
| SEQ2421 | BRESEK syndrome |
| SEQ2381 | Branchial-oculo-facial syndrome |
| SEQ2295 | Beta-Cystathionine synthetase, mutation ile278Thr and Gly3076Ser CBS gene |
| SEQ2271 | Beals Syndrome (Congenital Contractural Arachnodactyly) |
| SEQ2228 | Bardet-Biedl syndrome type 8 |
| SEQ2230 | Bardet-Biedl syndrome type 10 |
| SEQ2231 | Bardet-Biedl syndrome type 11 |
| SEQ2232 | Bardet-Biedl syndrome type 12 |
| SEQ2222 | Bardet-Biedl syndrome type 1 |
| SEQ2223 | Bardet-Biedl syndrome type 2 |
| SEQ2224 | Bardet-Biedl syndrome type 3 |
| SEQ2225 | Bardet-Biedl syndrome type 4 |
| SEQ2226 | Bardet-Biedl syndrome type 5 |
| SEQ2227 | Bardet-Biedl syndrome type 7 |
| SEQ2221 | Bardet-Biedl syndrome type 1, p.Met390Arg gene BBS1 mutation |
| SEQ1991 | ATR-X syndrome |
| SEQ2001 | X-linked autism |
| SEQ2015 | Familial autoinflammatory type Behcer-likem syndrome |
| SEQ1973 | Spinal muscular atrophy with respiratory failure |
| SEQ1974 | Autosomal dominant proximal muscular atrophy predominantly in the lower extremities without contractures |
| SEQ1941 | Ataxia due to vitamin E deficiency |
| SEQ1951 | Ataxia Telangiectasia |
| SEQ1961 | Ataxia Telangiectasia like |
| SEQ1965 | Childhood cerebral and cerebellar atrophy with progressive postnatal microcephaly |
| SEQ1972 | Spinal Muscular Atrophy (SMA) |
| SEQ1926 | Spinocerebellar Ataxia (SCA) Type 19 |
| SEQ1927 | Spinocerebellar Ataxia (SCA) Type 27 |
| SEQ1928 | Spinocerebellar Ataxia (SCA) Type 5 |
| SEQ1929 | Spinocerebellar Ataxia Type 28 |
| SEQ1911 | Charlevoix-Saguenay Spastic Ataxia |
| SEQ1921 | Spinocerebellar Ataxia (SCA) Type 11 |
| SEQ1923 | Spinocerebellar Ataxia (SCA) Type 14 |
| SEQ1924 | Spinocerebellar Ataxia (SCA) Type 18 |
| SEQ1925 | Spinocerebellar Ataxia (SCA) Type 18 |
| SEQ1893 | Autosomal recessive cerebellar ataxia type 8 |
| SEQ1901 | Friedreich's ataxia |
| SEQ1903 | Episodic Ataxia Type 1 |
| SEQ1905 | Episodic ataxia type 2 |
| SEQ1906 | Episodic ataxia type 5 |
| SEQ1907 | Episodic ataxia type 6 |
| SEQ1861 | X-linked Asperger syndrome |
| SEQ1871 | Oculomotor ataxia Apraxia |
| SEQ1881 | Autosomal recessive ataxia due to coenzyme Q10 deficiency (SCAR9) |
| SEQ1891 | Autosomal dominant cerebellar ataxia, deafness, and narcolepsy |
| SEQ1892 | Autosomal recessive cerebellar ataxia type 1 |
| SEQ1841 | Distal arthrogryposis type 2A |
| SEQ1842 | Distal arthrogryposis type 2B |
| SEQ1844 | Distal arthrogryposis type 7 |
| SEQ1851 | Childhood progressive pseudo-rheumatoid arthropathy |
| SEQ1811 | Argininemia (Arginase Deficiency) |
| SEQ1761 | Thrombomodulin genetic abnormalities |
| SEQ1771 | Antley-Bixler syndrome |
| SEQ1772 | Anttley-Bixler-like syndrome, ambiguous genitalia, impaired steroidogenesis |
| SEQ1781 | Apert syndrome, p.Ser252Trp and p.Pro253Arg mutations by FGFR2 gene sequencing |
| SEQ1721 | Hereditary cerebral amyloid angiopathy |
| SEQ1722 | Hereditary cerebral amyloid angiopathy |
| SEQ1701 | Síndrome de Angelman |
| SEQ1581 | Neuralgic amyotrophy |
| SEQ1591 | Andermann syndrome, c.2436delC mutation by SLC12A6 gene sequencing |
| SEQ1601 | Andersen syndrome |
| SEQ1571 | Familial amyloidosis, p.Val50Met (V30M) TTR gene mutation |
| SEQ1572 | Familial Amyloidosis |
| SEQ1573 | Finnish-type familial amyloidosis |
| SEQ1578 | Familial Amyloidosis |
| SEQ1521 | Alstrom syndrome |
| SEQ1531 | Alzheimer's disease |
| SEQ1532 | Alzheimer's disease |
| SEQ1533 | Alzheimer's disease |
| SEQ1534 | Alzheimer's disease |
| SEQ1451 | Alpha-1-Antitrypsin, deficiency |
| SEQ1471 | Alpha-Thalassemia |
| SEQ1481 | Allgrove syndrome |
| SEQ1432 | Alcardi-Goutieres syndrome |
| SEQ1433 | Alcardi-Goutieres syndrome |
| SEQ1434 | Alcardi-Goutieres syndrome |
| SEQ1435 | Alcardi-Goutieres syndrome |
| SEQ1421 | Alkaptonuria |
| SEQ1431 | Alcardi-Goutieres syndrome |
| SEQ1395 | Aicardi Goutieres syndrome |
| SEQ1389 | Lissencephaly |
| SEQ1390 | Early-onset myopia, areflexia, respiratory distress, and dysphagia syndrome (EMARDD) |
| SEQ1382 | Metabolic myopathies and Rhabdomyolysis |
| SEQ1383 | Neuroacanthocytosis, Wilson's Disease, and Hemochromatosis |
| SEQ1386 | Tyrosinemia |
| SEQ1377 | Dystroglycanopathies |
| SEQ1379 | Glycogen metabolism disorder diseases |
| SEQ1380 | Metabolism errors with hyperammonemia |
| SEQ1371 | Adrenoleukodystrophy |
| SEQ1373 | Arthrogryposis |
| SEQ1376 | Coenzyme Q10 deficiency |
| SEQ1351 | Adams-Oliver syndrome |
| SEQ1352 | Adams-Oliver syndrome |
| SEQ1356 | Adams-Oliver syndrome |
| SEQ1342 | Stroke and hemiplegia |
| SEQ1283 | Recessive Distal Renal Tubular Acidosis |
| SEQ1291 | 2-hydroxyglutaric aciduria |
| SEQ1301 | Fumaric aciduria, mutation c1431_1433dupAAA FH gene |
| SEQ1260 | Methylmalonic acidemia - homocystinuria, type cbl C |
| SEQ1261 | Methylmalonic acidemia with homocystinuria, type cbl F |
| SEQ1263 | Methylmalonic acidemia, vitamin B12 sensitive, type cbl B |
| SEQ1267 | Mevalonic acidemia syndrome, porokeratosis 3, hyper-IgD syndrome |
| SEQ1271 | Propionic acidemia |
| SEQ1272 | Propionic acidemia |
| SEQ1253 | Methylmalonic acidemia |
| SEQ1254 | Methylmalonic acidemia |
| SEQ1255 | Methylmalonic acidemia |
| SEQ1256 | Methylmalonic acidemia |
| SEQ1257 | Methylmalonic acidemia |
| SEQ1259 | Methylmalonic acidemia - homocystinuria, type cbl C, mutation c.271dupA MMACHC gene |
| SEQ1233 | Glutaric acidemia type 3 |
| SEQ1234 | Glutaric acidemia type 4 |
| SEQ1241 | Isovaleric acidemia |
| SEQ1252 | Methylmalonic acidemia |
| SEQ1221 | Aceruloplasminemia |
| SEQ1225 | Greig Cefalopolisindactilia syndrome, Pallister-Hall syndrome, postaxial polydactyly types A and B and prefacial polydactyly type IV |
| SEQ1231 | Glutaric acidemia |
| SEQ1087 | Ambiguous Genitalia |
| SEQ1089 | Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability |
| SEQ1072 | DICER1 Syndrome |
| SEQ1060 | Familial Pheochromocytoma |
| SEQ1059 | Neurofibromatosis |
| SEQ1046 | Spinocerebellar Ataxia |
| SEQ1048 | Spinocerebral ataxia |
| SEQ1037 | Alternating hemiplegia of childhood |
| SEQ1038 | Congenital Central Hypoventilation Syndrome |
| SEQ1039 | Familial hemiplegic migraine / episodic ataxia |
| SEQ1041 | Parkinson's disease |
| SEQ1042 | Congenital myopathies |
| SEQ1044 | Inclusion body myositis |
| SEQ1045 | Migraines |
| SEQ1032 | Neuro-Ophthalmology |
| SEQ1033 | Hereditary spastic paraplegia |
| SEQ1034 | Choreoathetosis |
| SEQ1035 | Dystonias |
| SEQ1036 | Fahr syndrome |
| SEQ1025 | Congenital myasthenia |
| SEQ1026 | Cerebral lipofuscinosis |
| SEQ1027 | Charcot-Marie Tooth and related hereditary sensory-motor neuropathies |
| SEQ1028 | Hereditary Distal Neuropathy |
| SEQ1029 | Sensory autonomic neuropathy |
| SEQ1030 | Malignant hyperthermia |
| SEQ1018 | Muscular dystrophies |
| SEQ1019 | Congenital central nucleus myopathy |
| SEQ1020 | Fiber disproportionation myopathy and Shprintzen-Goldberg syndrome |
| SEQ1022 | Spinal Muscular Atrophy |
| SEQ1023 | ALS / Frontotemporal dementia and syndromes included in the Ddx |
| SEQ1024 | Neuromuscular channelopathies |
| SEQ1014 | Leukodystrophies |
| SEQ1015 | Alzheimer's disease and dementias |
| SEQ1016 | Frontotemporal dementia |
| SEQ1017 | Waist Muscular Dystrophy (LGMD) |
| PRE7001 | Rasopathies (Noonan Syndrome included) |
| MLP3601 | WAGR syndrome / Frasier syndrome |
| MLP3611 | Williams-Beuren syndrome |
| MLP3621 | Wilson disease |
| MLP3625 | Wolf-Hirschhorn syndrome |
| MLP3701 | Fragile X syndrome |
| MLP3431 | Tricho-rhino-phalangeal syndrome type 1 / Langer-Giedion syndrome |
| MLP3441 | Malignant rhabdoid tumor |
| MLP3501 | Von Hippel-Lindau syndrome |
| MLP3321 | Smith-Magenis syndrome |
| MLP3331 | Sotos syndrome |
| MLP3341 | Autosomic dominant Stickler syndrome |
| MLP3411 | Neurometabolic disorders |
| MLP3151 | Rubinstein–Taybi syndrome |
| MLP3301 | Segawa disease |
| MLP3302 | Segawa disease / myoclonic dystonia 11 syndrome |
| MLP3101 | Resistance to insulin-like growth factor I |
| MLP3001 | Pompe disease |
| MLP2921 | Parkinson disease |
| MLP2931 | Pelizaeus-Merzbacher disease/ Spastic paraplegia type 2 |
| MLP2905 | MLPA: hepatic spastic paraparesis |
| MLP2911 | Spastic paraplegia 11 |
| MLP2912 | Hereditary spastic paraplegia |
| MLP2743 | Neurofibromatosis type 2 |
| MLP2751 | Niemann-Pick disease type C |
| MLP2801 | Opitz syndrome |
| MLP2731 | Neurodegeneration with brain iron accumulation |
| MLP2741 | Neurofibromatosis type 1 |
| MLP2742 | Neurofibromatosis type 1 |
| MLP2591 | Myotonia congenita |
| MLP2711 | Nephronophthisis 1 / Joubert syndrome type 4 |
| MLP2561 | Menkes syndrome |
| MLP2579 | Miller-Dieker syndrome |
| MLP2581 | Familial hemiplegic migraine / Episodic ataxia |
| MLP2531 | Mitochondrial DNA maintenance |
| MLP2431 | X-linked lissencephaly |
| MLP2501 | Cerebral cavernous malformations |
| MLP2511 | Limb malformations |
| MLP2312 | Kallmann 2 syndrome |
| MLP2321 | Kleefstra syndrome |
| MLP2331 | Alzheimer's disease / Pick disease / Frontotemporal dementia |
| MLP2341 | Krabbe disease |
| MLP2401 | Leukodystrophy |
| MLP2301 | Kabuki syndrome |
| MLP1831 | Tuberous sclerosis 1 |
| MLP1832 | Tuberous sclerosis 2 |
| MLP1870 | Fabry disease |
| MLP1811 | Glycine encephalopathy |
| MLP1821 | Autosomal Dominant Lateral Temporal Lobe Epilepsy |
| MLP1725 | Merosin-deficient-congenital muscular dystrophy |
| MLP1731 | Limb-girdle muscular dystrophy |
| MLP1741 | Duchenne muscular dystrophy |
| MLP1751 | Dravet syndrome |
| MLP1691 | X-linked Autosomal Anhidrotic ectodermal dysplasia |
| MLP1701 | Dystonia |
| MLP1702 | Dystonia |
| MLP1703 | Dystonia |
| MLP1704 | Dystonia |
| MLP1681 | Campomelic dysplasia |
| MLP1651 | Mitochondrial DNA depletion Syndrome |
| MLP1621 | Ornithine transcarbamylase deficiency |
| MLP1631 | X-linked creatine transporter deficiency |
| MLP1641 | Glucose Transporter type 1 deficiency |
| MLP1501 | Cornelia de Lange syndrome |
| MLP1551 | CRI-DU-CHAT syndrome. |
| MLP1601 | Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency |
| MLP1611 | Fumarase deficiency |
| MLP1454 | X-linked Charcot-Marie-Tooth disease |
| MLP1471 | Cohen syndrome |
| MLP1481 | Cholestasis |
| MLP1445 | MLPA: Cavernomatosis cerebral |
| MLP1447 | Cerebral Cavernomatosis |
| MLP1448 | Cerebral Cavernomatosis |
| MLP1451 | Charcot-Marie-Tooth disease type 1A / Hereditary Neuropathy with liability to Pressure Palsies |
| MLP1452 | Charcot-Marie-Tooth disease type 2A/1B |
| MLP1441 | Hereditarian diffuse gastric cancer |
| MLP1097 | Temple syndrome |
| MLP1101 | Spinal Muscular Atrophy |
| MLP1102 | Spinal Muscular Atrophy |
| MLP1105 | Neurometabolic diseases |
| MLP1062 | Alzheimer's disease |
| MLP1066 | Hereditary neuralgic amyotrophy |
| MLP1071 | Angelman syndrome / Prader Willi syndrome |
| MLP1091 | Ataxia-Telangiectasia |
| MLP1095 | Charlevoix-Saguenay spastic ataxia |
| MLP1061 | Early-onset Alzheimer's disease |
| MIT1401 | Mitochondrial myopathies |
| MIT1402 | Common mitochondrial myopathies (CPEO, KSS) |
| MIT1502 | Neuropathy, Ataxia and Retinitis Pigmentosa (NARP)/Leber's optic neuropathy (LOHN) |
| MLP1001 | Aarskog-Scott syndrome |
| MIT1301 | Leigh syndrome Mitochondrial Encephalopathy |
| MIT1302 | Common Mitochondrial Encephalopathy: Leigh , MELAS, MERRRF |
| MIT1303 | Mitochondrial Encephalopathy, other |
| MIT1304 | Mitochondrial Encephalopathy, MT-TL1 |
| MIT1305 | Mitochondrial encephalopathies, MT-TK |
| MIT1101 | Common mitochondrial myopathies (CPEO or KSS) |
| EXN5007 | Epilepsy associated with neurometabolic alterations |
| EXN5008 | Generalised epilepsy with febrile seizures plus |
| EXN5010 | Focal Epilepsy |
| EXN5011 | Benign familial neonatal-infantile seizures |
| EXN5001 | ExoNIM Plus Epilepsy |
| EXN5002 | Early infantile epileptic encephalopathy and/or infantile spasms |
| EXN5003 | Frontal Lobe Nocturnal Epilepsy |
| EXN5005 | Progressive Myoclonic Epilepsy |
| EXN5006 | Juvenile Myoclonic Epilepsy |
| EXN2005 | ExoNIM Plus Epilepsy |
| EXN1172 | Micro or Warburg-Sjo-Fledelius syndrome |
| EXN1173 | Distal myopathies |
| EXN1176 | BAF related disorders |
| EXN1155 | Migraines |
| EXN1163 | Inclusion body myositis |
| EXN1147 | Malignant hyperthermia |
| EXN1137 | Sensory and autonomic neuropathy |
| EXN1140 | Neuro-Ophthalmology |
| EXN1136 | Non-ketotic hyperglycemia - Glycine encephalopathy |
| EXN1116 | Meckel syndrome |
| EXN1117 | Ictus-Hemiplejia |
| EXN1105 | Congenital central hypoventilation syndrome |
| EXN1100 | Disorders of glycogen metabolism |
| EXN1096 | Familial hemiplegic migraine |
| EXN1090 | Bardet-Biedl syndrome |
| EXN1092 | Alternating hemiplegia of childhood |
| EXN1093 | Angelman syndrome and and syndromes included in the differential diagnosis |
| EXN1086 | Frontotemporal dementia |
| EXN1077 | Spinal Muscular Atrophy |
| EXN1078 | Autism |
| EXN1071 | Errors of Metabolism with Hyperammonemia |
| EXN1073 | Neuroacanthocytosis, Wilson's disease and Hemochromatosis |
| EXN1074 | X-linked intellectual disability |
| EXN1065 | Congenital myasthenia |
| EXN1066 | Dystroglycanopathies |
| EXN1067 | Brain Lipofuscinosis |
| EXN1068 | Choreoathetosis |
| EXN1060 | Coffin-Lowry syndrome |
| EXN1053 | Parkinson's disease |
| EXN1054 | Coffin-Siris syndrome |
| EXN1055 | Rubinstein-Taybi syndrome |
| EXN1056 | Muscular dystrophies |
| EXN1057 | Fahr's disease |
| EXN1051 | Arthrogryposis |
| EXN1052 | Dystonias |
| EXN1043 | Amyotrophic lateral sclerosis and syndromes included in the differential diagnosis |
| EXN1044 | Sotos syndrome and related syndromes |
| EXN1045 | Myopathies and Muscular dystrophies |
| EXN1036 | Limb-girdle muscular dystrophy (LGMD) |
| EXN1037 | Donnai-Barrow syndrome |
| EXN1038 | Microcephaly and pontocerebellar hypoplasia |
| EXN1028 | Congenital fiber-type disproportion myopathy and Shprintzen-Goldberg syndrome |
| EXN1029 | Congenital centronuclear myopathy |
| EXN1033 | Ataxias |
| EXN1021 | Joubert syndrome |
| EXN1022 | Kabuki syndrome |
| EXN1025 | Hereditary Spastic Paraplegia |
| EXN1026 | Leukodystrophies and DD |
| EXN1027 | Early-onset Alzheimer's disease |
| EXN1016 | Congenital Disorders of Brain Morphogenesis |
| EXN1019 | Collagen type VI related disorders |
| EXN1020 | Neuromuscular Channelopathies |
| EXN1012 | RASopathies |
| EXN1007 | Intellectual disability/mental retardation |
| EXN1010 | Mitochondrial disorders secondary to mutations in the nuclear DNA |
| CGH5015 | Analysis of microsatellites for detection of UPD chr15 for Angelman Syndrome |
| EXN1001 | Aicardi-Goutieres syndrome |
| EXN1002 | Spinocerebellar Ataxia |
| EXN1003 | Charcot-Marie Tooth and related hereditary motor and sensory neuropathies |
| 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
