CHILDHOOD EPILEPTIC ENCEPHALOPATHY: CLINICAL EXOME PANEL (Sec. & CNVs) – 139 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The Childhood Epileptic Encephalopathy Panel analyzes 139 genes associated with severe, early-onset epileptic syndromes characterized by refractory seizures, developmental regression, cognitive and motor impairments, and frequently, structural brain abnormalities or dysmorphisms. These encephalopathies include conditions such as West syndrome, Ohtahara syndrome, Dravet syndrome, Lennox-Gastaut syndrome, and other forms of ion channel-dependent epilepsy, synaptopathies, or metabolic defects. Next-generation sequencing (NGS) with detection of SNVs, indels, and CNVs allows for the identification of pathogenic variants in genes involved in neurotransmission (GABAergic and glutamatergic), neuronal channelopathy, synaptogenesis, protein glycosylation, and the regulation of cortical development. Among the most relevant genes are SCN1A, SCN2A, KCNQ2, STXBP1, CDKL5, ARX, PCDH19, SYNGAP1, MECP2, GRIN2A, and SLC2A1, among others. This panel offers a comprehensive molecular diagnosis that guides syndromic classification, prognosis, and the selection of targeted therapies.
Other tests
Preventive health test - AboutMe EXOME
545,00€
NEUROFIBROMATOSIS: GENES SMARCB1 Y LZTR1 (NGS-Sec) – ATG Medical
600,00€
Custom sequencing panels (1 to 15 genes)
660,00€