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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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