Epilepsy-related Gene Detection

Name: Epilepsy-related Gene Detection
Brand: CapitalBio Technology Co., Ltd.

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.

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Features of Epilepsy-related Gene Detection

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.

Specification of Epilepsy-related Gene Detection

Sample types	Venous Blood/ Dried Blood Spot/Tissue.
TAT	20 working days

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