Hereditary Hearing Loss: Syndromic Hearing Loss

Test Information
Test Name Hereditary Hearing Loss: Syndromic Hearing Loss
Lab (Location) The Hospital for Sick Children
Category Audiology
Subcategory Syndromic Hearing Loss
Gene/Platform/Region List COL4A3, COL4A4, COL4A5, EDN3, EDNRB, MITF, NDP, PAX3, SOX10, TCOF1
Test type Gene Panel
Samples Accepted Blood, DNA
Indications Diagnosis Diagnosis, Prenatal
Test Methodology Sequencing
Methodology Notes Exome
Diseases/Conditions Treacher Collins syndrome, Waardenburg syndrome, Norrie syndrome, Alport syndrome