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Table 2 Testing modality per clinical indication

From: The genomic landscape of rare disorders in the Middle East

 

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)

  1. aComparisons between NGS and CMA diagnostics yields
  2. bOverall count per patient; therefore, the sum/percentage will differ due to multiple tests performed per patient