Table 3. Overall Molecular Diagnosis Rate of Phenotypic Subgroups by Clinical Exome Sequencing Test Type.
| Phenotypic Subgroup | All | CES Test | ||||||
|---|---|---|---|---|---|---|---|---|
| Proband | Trioa | Otherb | ||||||
| Rate | % (95% CI) | Rate | % (95% CI) | Rate | % (95% CI) | Rate | % (95% CI) | |
| DD | 83/298 | 28 (23-33) | 12/63 | 19 (11-31) | 68/211 | 32 (26-39) | 3/24 | 13 (4-32) |
| DD + hypotonia | 28/111 | 25 (18-34) | 2/27 | 7 (1-24) | 26/80 | 33 (23-43) | 0/4 | 0 (0-55) |
| DD + epilepsy or seizures | 32/108 | 30 (22-39) | 4/26 | 15 (6-34) | 27/73 | 37 (27-48) | 1/9 | 11 (0-46) |
| DD + dysmorphic features | 44/144 | 31 (24-39) | 4/30 | 13 (5-30) | 37/99 | 37 (28-47) | 3/15 | 20 (6-46) |
| DD + autism | 11/69 | 16 (9-27) | 0/10 | 0 (0-32) | 10/47 | 21 (12-35) | 1/12 | 8 (0-38) |
| DD + heart disorder | 11/36 | 31 (18-47) | 1/4 | 25 (3-71) | 9/30 | 30 (17-48) | 1/2 | 50 (9-91) |
| Ataxia and related neurological disorders | 11/86 | 13 (7-22) | 10/77 | 13 (7-22) | 1/6 | 17 (1-58) | 0/3 | 0 (0-62) |
| Muscular dystrophy and related disorders | 22/74 | 30 (20-41) | 14/57 | 25 (15-37) | 8/15 | 53 (30-75) | 0/2 | 0 (0-71) |
| Cardiomyopathy and arrhythmia | 10/39 | 26 (14-41) | 7/23 | 30 (15-51) | 3/14 | 21 (7-48) | 0/2 | 0 (0-71) |
| Cancer predisposition | 7/36 | 19 (9-35) | 5/15 | 33 (15-59) | 1/16 | 6 (0-30) | 1/5 | 20 (2-64) |
| Disorder of sexual development | 6/35 | 17 (8-33) | 5/18 | 28 (12-51) | 0/14 | 0 (0-25) | 1/3 | 33 (6-80) |
| Retinal disorders | 15/31 | 48 (32-65) | 5/12 | 42 (19-68) | 7/11 | 64 (35-85) | 3/8 | 38 (13-70) |
Abbreviations: CES, clinical exome sequencing; DD, developmental delay.
a
The trio-CES group includes 12 quartets (trio + sibling) and 1 quintet (trio + 2 siblings).
b
The other CES group includes cases where only 1 or no parent was sequenced but other family members were sequenced.