Table 2.

Testing modality per clinical indication

	NGS		CMA		P Valuea	SMA		Fragile X		MS-MLPA/MLPA		Multiple testing		Overallb
	Total no.	%Positive (95% CI)	Total no.	%Positive (95% CI)		Total no.	%Positive (95% CI)	Total no.	%Positive (95% CI)	Total no.	%Positive (95% CI)	Total no.	%Positive (95% CI)	Total no.	%Positive (95% CI)
Clinical indication
Neurological	223	39.5% (33.3–46.0)	190	15.3% (10.8–21.1)	0.0001	154	33.1% (26.2–40.9)	103	1.0% (0.2–5.3)	20	45.0% (25.8–65.8)	132	31.1% (23.8–39.4)	540	32.2% (28.4–36.3)
Non-neurological	333	36.9% (31.9–42.2)	136	19.9% (14.0–27.3)	0.0003	0	0.0%	3	0.0%	11	27.3% (9.7–56.6)	22	40.9% (23.3–61.3)	460	32.8% (28.7–37.2)
Overall	556	37.9% (34.0–42.1)	326	17.2% (13.5–21.6)	0.0001	154	33.1% (26.2–40.9)	106	0.9 % (0.2–5.2)	31	38.7% (23.7–56.2)	154	32.5% (25.6–40.2)	1000	32.5% (29.7–35.5)

^aComparisons between NGS and CMA diagnostics yields

^bOverall count per patient; therefore, the sum/percentage will differ due to multiple tests performed per patient