1. Articles on ear, nose & throat

Ear, nose & throat

The goal of genetic testing in ear, nose and throat disease is to determine whether or not a patient has a disease in one of these areas, or is likely to develop it. Hereditary hearing loss is frequently missed or mis-diagnosed, and early detection ensures the chance for improved speech development and quality of life for affected patients.

Articles on ear, nose & throat

  • Non-syndromic sensorineural deafness

    Hearing loss, also known as deafness, is the inability of affected person to hear. Hearing loss can be caused by a number of different factors, including genetics, environment, birth complications, trauma, certain medications or toxins, and many others. Hereditary hearing loss (“congenital…

  • Alport syndrome

    Alport syndrome (ATS) is a rare disease caused by genetic mutations in one of the type IV collagen genes that encode connective tissue proteins localized within basement membranes of the kidneys, ears, and eyes. Thus, the disease is characterized by renal, cochlear, and ocular involvement.