Hearing Loss
Hearing loss in infants and children- Hearing loss is one of the most frequent hereditary defects.
- Early diagnosis allows for early intervention. Hearing impairment should be recognized as early as possible, since it is generally regarded that the most important period for language and speech development is the first three years of life.
- Delayed diagnosis of hearing loss in infants may have a harmful effect on social, emotional, cognitive, and academic development.
- Identification of your patient's specific mutation provides important information for genetic counseling, including prognosis and recurrence risk.
Athena offers the following tests to aid in the diagnosis of hearing loss: - The Connexin 26 DNA Sequencing Test, #321
Mutations in the Connexin 26 gene account for up to 50% of all cases of genetic hearing loss. At least 62 different disease-causing mutations have been identified on the Connexin 26 gene; therefore, Athena analyzes the entire coding region of the Connexin 26 gene (GJB2), as well as the exon 1 donor splice junction.
- The OtoDx™ Aminoglycoside Hypersensitivity Test, #327
The A1555G mutation, located on the mitochondrial genome, is known to cause aminoglycoside hypersensitivity, also known as antibiotic-induced deafness. The A12555G mutation can also cause non-syndromic sensorineural hearing loss in the absence of aminoglycoside exposure.
- The OtoDx™ Sensorineural Hearing Loss Panel, #329
This panel detects mutations in the GJB2 gene and detects a deletion in the GJB6 gene, and includes testing for both the Connexin 26 and the A1555G mutations; both are causes of non-syndromic, sensorineural hearing loss.
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