The present application relates to the technical field of
gene detection, in particular to a
gene panel, method, device and use for
somatic cell variation detection of SLC35A2
gene. The present application provides a
gene panel, which can
target capture the entire SLC35A2 gene related region, including exons, introns, promoters and enhancers, and carry out
somatic cell variation detection, including SNVs, small Indels and SVs. The panel is used for detection of
refractory epilepsy surgical
brain tissue specimens, and can genetically diagnose mild cortical
dysplasia with oligodendrogliosis
epilepsy (MOGHE). This kind of
disease is a new subtype of focal cortical
dysplasia newly included by the International League Against
Epilepsy in 2022. The panel has high variation
detection rate and more comprehensive variation detection types.