Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies

Table 1

Summary of all diagnostic studies performed on 4 patients with EOEE.

Test	C1	C2	C3	C4
Routine blood chemistry and complete blood count	√	√	√	√
Plasma amino acids	√	√	√	√
Urine organic acids	√	√	√	√
Urine creatine	√		√
Urine alpha amino adipic semialdehyde			√
Acylglycine/acyl carnitine profile	√	√	√	√
Very long chain fatty acids	√		√
Serum peroxisomal panel				√
Vitamin/mineral assays	√	√	√	√
Carbohydrate deficient transferrin	√	√		√
MRI brain	√	√	√	√
Cerebrospinal fluid for routine testing	√		√	√
Cerebrospinal fluid for amino acids	√
Cerebrospinal fluid neurotransmitters	√			√
Chromosomal microarray	√	√	√	√
Karyotype	√		√
Molecular FISH		√
Angelman/Prader Willi genetic testing		√	√	√
Epilepsy panel	√		√	√
X-linked mental retardation panel	√
X-linked microcephaly panel			√
Dual genome panel		√		√
Leukocyte lysosomal assay	√	√	√
Rett syndrome	√
SCN1A	√
CDKL5	√
ATP7A deletion/duplication and sequencing	√	√
SLC9A testing		√
Urine organic acids	√	√	√
Urine sialic acid	√	√
Urine creatine analysis		√
Mitochondrial analysis (various methods)		√		√
Muscle biopsy		√
Nerve biopsy		√
Skin biopsy		√
EEG	√	√	√	√
EMG				√