Fig. 7

Cost analysis. (a) Modeling diagnostic trajectories for SRNS patients with suspected single gene mutations. tier 1 includes baseline investigations, tier 2 and tier 3 include increasingly complex and/or costly investigations. Diagnostic tests are based on current guidelines and local clinical practice. In the late genetic testing model, patients first undergo Tier 1–3 investigations, followed by genetic testing. In the early genetic testing model, patients go through only Tier 1 and then directly to genetic testing. If positive results were not obtained from the test, further genetic testing would be performed until a final diagnosis was reached. In both models, the prices for all checks were the same as the actual local prices. (b) Comparison of the average cost per diagnosis for late versus early genetic testing models in the study population. (c) Comparison of real-life diagnostic procedure costs with early genetic testing model. Retrieve all costs incurred by the real-life diagnostic procedure for 40 children. Compare the average cost incurred by the real-life diagnostic pathway to the cost of the early genetic testing model. (d) Average real-life versus early genetic testing model cost. (e) The real genetic test model 1 was the cost of the first genetic test to determine the single gene cause in the 40 patients described above, for a total of 36 children diagnosed with the first genetic test. The real genetic test model 2 was the cost of the remaining 4 children who had a second genetic test to determine a single gene cause. (f) Comparison of the actual costs of the real genetic testing model 1 with the real genetic testing model 2