Parameter description	Probability distribution
Prevalence	Beta (mean = 0.31, SD = 0.13)
Sensitivity of MLPA	Beta (α = 9, β = 1)
Specificity of MLPA	Beta (α = 11, β = 1)
Cost of MLPA	Triangular (minimum 55.35, likeliest 73.08, maximum 93.35)
Sensitivity of real‐time PCR	Beta (α = 11, β = 1)
Specificity of real‐time PCR	N/A
Cost of real‐time PCR	Triangular (minimum 106.66, likeliest 142.21, maximum 177.76)
Sensitivity of FISH	Beta (α = 196, β = 37)
Specificity of FISH	Beta (α = 638, β = 48)
Cost of FISH	Triangular (minimum 139.46, likeliest 185.95, maximum 232.44)
Sensitivity of aCGH	Beta (α = 31, β = 1)
Specificity of aCGH	Beta (α = 26, β = 3)
Cost of aCGH	Triangular (minimum 175.10, likeliest 233.47, maximum 291.84)
Sensitivity of SNP array	Beta (α = 16, β = 2)
Specificity of SNP array	Beta (α = 18, β = 1)
Cost of SNP array	Triangular (minimum 192.60, likeliest 256.80, maximum 321.00)
Sensitivity of NGS	Beta (α = 19, β = 1)
Specificity of NGS	Beta (α = 31, β = 2)
Cost of NGS	Triangular (minimum 428.15, likeliest 570.87, maximum 713.59)