Developmental and Epileptic Encephalopathy-25 (SLC13A5) Targeted Testing

Short Name: SLC13A5 Targeted

Developmental and Epileptic Encephalopathy-25 is an autosomal recessive condition caused by pathogenic variants in the SLC13A5 gene. It is characterized by the onset of refractory seizures in early infancy. Most patients often present with the seizures in the neonatal period but some patients may have onset of seizures later in infancy. Developmental delay, intellectual disability, and poor speech and communication are shown by affected individuals. The c.1460C>T (p.Pro487Leu) variant has been identified in Amish populations. This test will specifically analyze the c.1450C>T variant on the SLC13A5 gene.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 615905
MedGen: 863058