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Reference

Disease

SEQ5181 Juvenile myoclonic epilepsy
SEQ5182 Juvenile myoclonic epilepsy
SEQ5191 Progressive myoclonic epilepsy type 3
SEQ5201 Familial Benign Neonatal Epilepsy
SEQ5202 Familial Benign Neonatal Epilepsy
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
SEQ5131 Pyridoxine Dependent Epilepsy
SEQ5132 Pyridoxine Dependent Epilepsy
SEQ4601 Dravet syndrome (Severe myoclonic epilepsy of childhood)
MLP1821 Autosomal Dominant Lateral Temporal Lobe Epilepsy
MLP1491 Benign familial neonatal seizures type 2 / Epilepsy
EXN5007 Epilepsy associated with neurometabolic alterations
EXN5008 Generalised epilepsy with febrile seizures plus
EXN5010 Focal Epilepsy
EXN6004 Extension of Exome targeted - ExoNIM epilepsy
EXN5001 ExoNIM Plus Epilepsy
EXN5003 Frontal Lobe Nocturnal Epilepsy
EXN5005 Progressive Myoclonic Epilepsy
EXN5006 Juvenile Myoclonic Epilepsy
EXN2005 ExoNIM Plus Epilepsy
SEQ references correspond to studies performed using NIMSeq®
EXN references correspond to studies performed using ExoNIM®

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