Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing
Table 1
Demographic characteristics of all pediatric GS cases.
Total no. (%)
Neonates (<1 M)
Infants (1-12 M)
Toddlers (13-36 M)
Children (3-11 Y)
Adolescents (12-18 Y)
All cases
1487 (100)
61 (4.1)
241 (16.2)
233 (15.7)
657 (44.2)
295 (19.8)
Proband sex
Female
647 (43.5)
22 (3.4)
121 (18.7)
105 (16.2)
272 (42.0)
127 (19.6)
Male
840 (56.5)
39 (4.6)
120 (14.3)
128 (15.2)
385 (45.8)
168 (20.0)
Previous testing
With prior genetic testing
694 (46.7)
11 (1.6)
88 (12.7)
122 (17.6)
330 (47.6)
143 (20.6)
Without prior genetic testing
793 (53.3)
50 (6.3)
153 (19.3)
111 (14.0)
327 (41.2)
152 (19.2)
Sample type
DBS
200 (13.4)
12 (6.0)
49 (24.5)
42 (21.0)
79 (39.5)
18 (9.0)
Saliva
632 (42.5)
6 (0.9)
53 (8.4)
97 (15.3)
309 (48.9)
167 (26.4)
Whole blood
461 (31.0)
38 (8.2)
112 (24.3)
63 (13.7)
173 (37.5)
75 (16.3)
gDNA
194 (13.0)
5 (2.6)
27 (13.9)
31 (16.0)
96 (49.5)
35 (18.0)
Analysis
Singleton
711 (47.8)
35 (4.9)
135 (19.0)
114 (16.0)
293 (41.2)
134 (18.8)
Trio
776 (52.2)
26 (3.4)
106 (13.7)
119 (15.3)
364 (46.9)
161 (20.7)
Secondary findings
ACMG
1145 (77.0)
33 (2.9)
171 (14.9)
181 (15.8)
526 (45.9)
234 (20.4)
Other diagnostic
869 (58.4)
24 (2.8)
113 (13.08)
129 (14.8)
425 (48.9)
178 (20.5)
Carrier status
884 (59.4)
24 (2.7)
110 (12.4)
132 (14.9)
436 (49.3)
182 (20.6)
PGx
881 (59.2)
23 (2.6)
106 (12.0)
141 (16.0)
425 (48.2)
186 (21.1)
M: months; Y: years; CI: confidence interval; DBS: dried blood spots; gDNA: genomic DNA; ACMG: American College of Medical Genetics and Genomics; PGx: pharmacogenomics.
