Cost 
$1,000.00
TAT 
4 weeks
CPT Code 
81405
Test Code 
4106
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Cultured Cells
Extracted DNA
Notes 
If sending saliva, 2 kits are required.

Early infantile epileptic encephalopathy (EIEE) is a severe form of epilepsy characterized by frequent tonic spasms with onset in the first months of life.  EEG reveals suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Seizures are medically intractable with evolution to West syndrome at 3-6 months of age and then Lennox-Gastaut syndrome at 1-3 years of age.  Patients have severe developmental delay and poor prognosis. EIEE3 is caused by mutations in SLC25A22 (solute carrier family 25, member 22; OMIM#609302), located at 11p15.5.  Homozygous mutations in SLC25A22 have been described in case reports of consanguineous families with EIEE. To date, no deletions/duplications in the SLC25A22 gene have been reported as causative of EIEE.  SLC25A22 deletion/duplication is available as an individual test or as part of our Early Infantile Epileptic Encephalopathy (EIEE) panel. Please see our information sheet for more details.