Familial Focal Epilepsy with Variable Foci-3 (NPRL3) Targeted Testing

Short Name: NPRL3 Targeted

Familial focal epilepsy with variable foci-3 is an autosomal dominant condition caused by a pathogenic variant in the NPRL3 gene. The disorder is characterized by focal seizures arising from different cortical regions, including lobes of the brain (frontal, temporal, parietal, and occipital). The different seizure types associated with the disorder include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). Some patients may have structural brain abnormalities such as focal cortical dysplasia. The c.349delG (p.Glu117Lysfs*5) variant has been identified in the Amish and is specifically analyzed in this test.

CPT Code: 81403
Turn-Around Time: 1-2 weeks
OMIM: 617118
MedGen: 934675