Research Article
Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies
Table 4
Cost per patient diagnostic investigation beyond Tier 1. The year the test was ordered is listed along with the hospital charge per investigation.
| | Hospital for Sick Children Tier | Category of test | Case | Charges Case | Case | Charges Case | Case | Charges Case | Case | Charges Case |
| | Tier 2 | Lab/metabolite | Batten DNA testing (2009) | $817 | Lysosomal enzymes (2007) | $1247 | Vitamin B12 assay (2014) | $127 | | | | Chromosomal testing | | | | | Karyotype (2014) | $1110 | | | | | | | | Chromosome breakage studies (2014) | $766 | | | | Single gene test | CDKL5 sequencing (2009) | $6757 | Angelman (2008) | $2210 | | | Prader Willi and Angelman molecular analysis (2013) | $650 | | SCN1A gene screen (2009) | $3050 | | | | | | | | Rett syndrome amplification (2009) | $2927 | | | | | | | | XLMR9 (2009) | $6757 | SLC9A6 (2009) | $6757 | Angelman methylation assay | $650 | | | | Gene panels | Lysosomal panel testing (2009) | $1247 | Mito met chip (2008) | $3200 | Infantile epilepsy panel (2014) | $5048 | Dual genome panel (2014) | $3200 | | ATP7A comprehensive panel (2013) | $6430 | | | Microcephaly sequencing panel (2015) | $6025 | Early infantile epilepsy panel (2015) | $4500 | | Infantile epilepsy panel (2013) | $5048 | | | | | Peroxisomal panel (2014) | $665 |
| | Tier 3 | Biopsy | | | Thigh and sural nerve biopsy (2011) | $9558 | | | | | | | | Skin biopsy (2011) | $379 | | | | |
| | Total additional cost | | | $35,483 | | $23,351 | | $13,726 | | $9,015 |
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