Classification |
Reference |
Disease |
|---|---|---|
|
White matter disturbances
|
SEQ4940 | Evanescent White Substance Encephalopathy |
| EXN1026/SEQ1014 | Leukodystrophies and DD | |
|
Dementias
|
EXN1027/SEQ1015 | Early-onset Alzheimer's disease |
| EXN1086/SEQ1016 | Frontotemporal dementia | |
|
Structural congenital muscle diseases
|
EXN1056/SEQ1018 | Muscular dystrophies |
| EXN1036/SEQ1017 | Limb-girdle muscular dystrophy (LGMD) | |
| EXN1045/SEQ5021 | Myopathies and Muscular dystrophies | |
| SEQ1042 | Congenital myopathies | |
| EXN1029/SEQ1019 | Congenital centronuclear myopathy | |
| EXN1173 | Distal myopathies | |
| SEQ7181 | Multiminicore myopathy | |
| SEQ1020 | Fiber disproportionation myopathy and Shprintzen-Goldberg syndrome | |
| EXN1019/SEQ4505 | Collagen type VI related disorders | |
| SEQ7194 | Bethlem type 1 myopathy | |
| EXN1163/SEQ1044 | Inclusion body myositis | |
|
Frontotemporal dementia with motor neuron disease
|
EXN1077/SEQ1022 | Spinal Muscular Atrophy |
| EXN1043/SEQ1023 | Amyotrophic lateral sclerosis and syndromes included in the differential diagnosis | |
|
Neurometabolic diseases
|
EXN1136/SEQ4981 | Non-ketotic hyperglycemia - Glycine encephalopathy |
| EXN1067/SEQ1026 | Brain Lipofuscinosis | |
| SEQ6952 | Neuronal ceroid lipofuscinosis | |
| EXN1100/SEQ1379 | Disorders of glycogen metabolism | |
|
Congenital muscle diseases
|
EXN1020/SEQ1024 | Neuromuscular Channelopathies |
| EXN1065/SEQ1025 | Congenital myasthenia | |
| Metabolic myopathies | SEQ8132 | Familial Hypokalemic Periodic Paralysis |
|
Hereditary neuropathy |
EXN1003 /SEQ1027 | Charcot-Marie Tooth and related hereditary motor and sensory neuropathies |
| EXN1011 /SEQ1028 | Hereditary distal neuropathy | |
| EXN1137/SEQ1029 | Sensory and autonomic neuropathy | |
| Spastic paraplegia | EXN1025/SEQ1033 | Hereditary Spastic Paraplegia |
|
Movement disorders
|
EXN1033 | Ataxias |
| EXN1002 /SEQ1046 | Spinocerebellar ataxia | |
| EXN1068/SEQ1034 | Choreoathetosis | |
| EXN1052/SEQ1035 | Dystonias | |
| EXN1053/SEQ1041 | Parkinson's disease | |
| EXN1073 | Neuroacanthocytosis, Wilson's disease and Hemochromatosis | |
| EXN1092/SEQ1037 | Alternating hemiplegia of childhood | |
| EXN1057/SEQ1036 | Fahr's disease | |
| EXN1105/SEQ1038 | Congenital central hypoventilation syndrome | |
|
Other disorders
|
SEQ2617 | CADASIL syndrome |
| EXN1147/SEQ1030 | Malignant hyperthermia | |
| EXN1117/SEQ1342 | Ictus-Hemiplejia | |
| EXN1155/SEQ1045 | Migraines | |
| EXN1096/SEQ1039 | Familial hemiplegic migraine | |
| EXN1140/SEQ1032 | Neuro-Ophthalmology | |
| EXN1021/SEQ1097 | Joubert syndrome | |
| SEQ references correspond to studies performed using NIMSeq® | ||
| EXN references correspond to studies performed using ExoNIM® | ||
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