Table 1.
Patients with genetic panel testing from Invitae and GeneDx.
| ID | Age 1 | Sex | Ethnicity | Other Clinical Findings 2 | Temporal Bone Imaging | Panel |
|---|---|---|---|---|---|---|
| 1 | 0.6 | M | NA | None | MRI: Normal | Invitae |
| 2 | 0.8 | F | Hispanic | None | CT and MRI: Normal | Invitae |
| 3 | 3 | M | NA | None | None | Invitae |
| 4 | 15 | M | White | Ocular | CT: Normal | Invitae |
| 5 | 6 | F | White | None | None | Invitae |
| 6 | 1.7 | M | Hispanic | None | MRI: Normal | GeneDx |
1 Age in years at which the patient underwent genetic testing. 2 Associated clinical presentations including craniofacial abnormalities, ocular findings, vestibular abnormalities, external ear malformations, and the presence of a neck mass as well as cardiac and renal findings were assessed. NA, information on ethnicity not provided by patient.