Comprehensive Deafness Panel

The Comprehensive Deafness Panel analyzes genes associated with syndromic and non-syndromic deafness. These are genetically heterogeneous disorders characterized by mild to profound deafness in early adulthood, childhood, or infancy. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling. Some genes in this test may be associated with additional disorders unrelated to this panel; such additional conditions are not included in the list of disorders tested. A small percentage of patients with one GJB2 pathogenic variant in trans with one of two common deletions that involve a portion of GJB6 have been described. The two deletions are denoted as ∆GJB6-D13S1830, and ∆GJB6-D13S1854 (PMID: 14571368, 15994881). This panel includes these common deletions.