Hearing Loss, Non-Syndromic (GJB2 (including GJB6 del) and SLC26A4)
| Test Information | |
|---|---|
| Test Name | Hearing Loss, Non-Syndromic (GJB2 (including GJB6 del) and SLC26A4) |
| Lab (Location) | Newborn Screening Ontario |
| Category | Audiology |
| Subcategory | Non-Syndromic Hearing Loss |
| Gene/Platform/Region List | GJB2 (deletion included), SLC26A4 |
| Test type | Gene Panel |
| Samples Accepted | Blood, DNA, Dried Blood Spot (accepted ONLY for exceptional circumstances) |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | CNV, Sequencing |
| Methodology Notes | |
| Diseases/Conditions | Non-syndromic hearing loss |
| Notes | Accepted for infants who have had PHL genetic screening at birth, are subsequently found to have hearing loss and when reported as an infant risk are found to be a carrier of one variant in GJB2 and/or SLC26A4. Accepted until 6 years of age. |