Evaluation | First-tier tests | Second-tier tests |
Clinical |
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Blood |
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Urine |
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Cerebrospinal fluid |
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Neuroimaging |
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alpha-AASA: alpha-aminoadipic semialdehyde; HSV: herpes simplex virus; MRI: magnetic resonance imaging; PCR: polymerase chain reaction; PLP: pyridoxal phosphate.
* Consider in cases of refractory neonatal seizures unresponsive to conventional antiseizure medications.
¶ Composition of the newborn screening panel varies by state and country.
Δ If biotinidase deficiency is not included in newborn screen.
◊ Consider genetic testing in cases of refractory neonatal seizures unresponsive to conventional antiseizure medications or with no cause identified on initial evaluation.
§ If available and MRI cannot be obtained in a timely manner.