- Suggested biochemical and genetic testing in early refractory seizures.
| Source | Diagnostic test |
|---|---|
| Blood | Blood glucose, electrolytes, creatine, ammonia, lactic acid, uric acid, copper, ceruloplasmin, homocysteine, biotinidase assay, VLCFA, transferrin isoelectric focusing, serum amino acids |
| Urine | alpha-aminoadipic semialdehyde acid, pipecolic acid, thiosulfate, xanthine, hypoxanthine, organic acids, guanidinoacetate, creatine, creatinine. |
| CSF | Glucose, lactate, pyruvate, neurotransmitters |
| Genetic testing | Array CGH, next generation sequencing (epilepsy panel, Whole exome sequencing) |
| VLCFA - very long chain fatty acid | |