Table 4.
Average number of declarations and associated costs per neonate
| Average number of declarations per neonate | |||
|---|---|---|---|
| Genetic diagnostic test | Unit price (€) | Routine genetic testingc | Rapid ES |
| Karyotype | 933 | 0.23 | - |
| FISH | 818 | 0.05 | - |
| Genomic microarray | 825 | 1.09 | - |
| Sanger sequencing | 561 | 0.13 | - |
| Disease specific gene | 871 | 0.05 | - |
| Gene panel | 1,768 | 0.04 | - |
| ESa | 5,409 | 0.73 | 1.00 |
| Otherb | 640 | 0.30 | - |
| Total | 2.62 (€5,494) | 1.00 (€5,409) | |
FISH fluorescence in situ hybridization, ES exome sequencing
aTrio-ES, so the unit price of singleton ES (€1,803) was multiplied by three, bfollow-up genetic test in one or more genes, cof note, the number of average tests performed in routine care on the index case (i.e., 1.87) deviates from the average number of total declarations as also parental samples are tested and results in healthcare-related costs to obtained diagnosis