Sensorineural Hearing Loss

Hereditary sensorineural hearing loss (SNHL) includes syndromic and non-syndromic forms. The syndromic forms of SNHL include Usher syndrome, Pendred syndrome, Waardenburg syndrome, Jervell and Lange-Nielsen syndromes, etc. Most cases of SNHL are nonsyndromic. SNHL can follow a pattern of autosomal dominant, autosomal recessive, x-linked recessive, or mitochondrial inheritance.

 

> Ordering information for NGS of targeted regions

> Ordering information for NGS panel

> Ordering information for GJB2 gene sequencing

 

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Determination of molecular genetic basis both of nonsyndromic and/or syndromic SNHL
  3. Distinguish different forms of nonsyndromic hearing loss and deafness
  4. Define etiology of hearing loss after aminoglycoside therapy
  5. Detection the carrier status of individuals with family history of maternally-inherited hearing loss with or without aminoglycoside therapy
  6. Detection the carrier status of relatives with a known mutation
  7. Genetic counseling
  8. Prenatal diagnosis