Table 5.

Cost of genetic testing by time period

Testing combination	Pre-protocol time period			Post-protocol time period
	n	Diagnosis from Testing	Cost	n	Diagnosis from Testing	Cost
Karyotype + 22q + CMA	111	18	$464,048.82	0	0	0
Karyotype + 22q	59	4	$92,340.31	0	0	0
Karyotype + CMA	81	24	$284,391.00	12	6	$42,132.00
QPCR + CMA	39	9	$128,124.75	17	3	$55,849.25
Karyotype only	56	33	$50,129.52	21	21	$18,798.57
22q only	34	2	$21,290.18	6	4	$4,019.52
CMA only	61	15	$159,535.13	65	12	$169,996.45
Patients tested	441	105	$1,199,859.71	121	46	$290,795.79
Patients untested	292	0	$0	37	0	$0
Total	733	105	$1,199,859.71	158	46	$290,795.79
Average Cost per Tested Patients	$2720.77			$2403.27
Average Cost per Diagnosis	$11,427.24			$6321.65

This table demonstrates the pre-protocol testing patterns and associated cost to the patient in addition to the number of genetic diagnoses made by the test specified. The bolded number reflect total average cost per tested patient and total cost per diagnosis for the two time periods. This demonstrates a post-protocol reduction in average cost per patient who underwent genetic testing by $317.50 and a post-protocol reduction on average cost per diagnosis by $5105.59. CMA Chromosomal Microarray, 22q = 22q11.2 deletion testing