Table 2.
Primary and secondary findings
| Parameter | Proportion (%) |
|---|---|
| Primary diagnosis | |
| Diagnosis made in study | 17/43 (39.5) |
| Diagnosis made by research exome | 16/43 (37.2) |
| Diagnosis made by chromosomal microarray | 0/24 (0) |
| CNV identified on chromosomal microarray | 3/24 (12.5) |
| Diagnosis made by GJB2 sequencing with reflex testing on the OtoGenome panel | 3/19 (15.8) |
| Diagnosis by the CHOP HL panel | 0/4 (0) |
| Diagnosis by targeted clinical testing | 0/5 (0) |
| No diagnosis made | 26/43 (60.5) |
| Inheritance pattern for 17 diagnosed cases | |
| Dominant, inherited | 3/17 (17.6) |
| Dominant, de novo | 2/17 (11.8) |
| X-linked | 1/17 (5.9) |
| Recessive, homozygous | 5/17 (29.4) |
| Recessive, compound heterozygous | 6/17 (35.3) |
| Secondary findings | |
| Immediately medically actionable | 2/43 (4.7) |
| Adult-onset medically actionable | 1/43 (2.3) |
| Carrier status | 27/43 (63) |
| Opted out of secondary findings | |
| Probands opting out of at least one category | 7/43 (16.3) |
| Immediately medically actionable | 2/43 (4.7) |
| Adult-onset medically actionable | 4/43 (9.3) |
| Carrier status | 6/43 (14.0) |