The Epilepsy-related gene testing of CapitalBio Technology is based on BES4000 semi-conductor sequencing platform, using target region capture and NGS technology together to detect the genes related epilepsy.
This panel covers 498 genetic diseases and 452 genes related to epilepsy.
Early infantile epileptic encephalopathy (Otahara syndrome)
Benign familial neonatal epilepsy
Benign familial infantile epilepsy
Generalized epilepsy with febrile seizure plus
Idiopathic generalized epilepsy
Progressive myoclonic epilepsy
Childhood absence epilepsy
Juvenile myoclonic epilepsy
Familial adult myoclonic epilepsy
Familial temporal lobe epilepsy
Nocturnal frontal lobe epilepsy
Tuberous sclerosis
Neurofibromas
Neuronal ceroid lipofuscinosis
Familial hemiplegic migraine
Rett syndrome
Autosomal dominant intellectual disability
Lissencephaly
Other epilepsy-related single-gene genetic diseases, such as genetic metabolic system, intellectual disability, multiple deformities, etc.
Applications of Epilepsy-related Gene Detection
Auxiliary diagnosis: looking for the pathogenicity reason of patients with suspected epilepsy, auxiliary clinical diagnosis.
Fertility guidance: provide fertility guidance for couples who have family history or have given birth to children.
Disease risk assessment: conduct risk assessment for high-risk groups with family history and provide early intervention programs to reduce the risk of disease.