Table 4.
Summary statistics for costs for patients with CMA non-diagnostic result only, for all activities prompted by CMA and WGS
| Mean | Median | SD | Lower quantile (10%) | Upper quantile (90%) | Min | Max | |
|---|---|---|---|---|---|---|---|
| CMA prompted | 136.20 | 0.00 | 530.94 | 0.00 | 168.00 | 0.00 | 3595.00 |
| (n = 93) | |||||||
| WGS prompted | |||||||
| WGS non-dx | |||||||
| (n = 71) | 76.55 | 0.00 | 574.18 | 0.00 | 0.00 | 0.00 | 4826.00 |
| WGS dx | |||||||
| (n = 22) | 179.68 | 0.00 | 327.95 | 0.00 | 557.30 | 0.00 | 1212.00 |
CMA chromosomal microarray analysis, dx diagnostic, WGS whole genome sequencing
Notes: The cost estimates included lab and imaging tests, visits with specialists and allied health professionals, and other activities. The cost estimates excluded the prices of the CMA or WGS test and the cost of activities that are standard after the CMA or WGS test, validation testing (Sanger sequencing) and genetic counseling