Auditory neuropathy is a hearing disorder where sound enters the inner ear normally, but the transmission of signals from the inner ear to the brain is impaired. This condition occurs due to damage or dysfunction in the auditory nerve fibers or inner hair cells of the cochlea, leading to a disruption in the timing and clarity of sound transmission. Individuals with auditory neuropathy may experience hearing loss, difficulty understanding speech, especially in noisy environments, and fluctuating hearing abilities. Diagnosis typically involves audiometric tests and auditory brainstem response (ABR) testing, which reveal normal outer hair cell function but abnormal neural responses.
Genetic testing plays a critical role in diagnosing and understanding the underlying causes of auditory neuropathy, particularly when it is suspected to be hereditary. By identifying specific genetic mutations associated with the condition, such as those in the OTOF, PJVK, or DIAPH3 genes, genetic testing can confirm a diagnosis of genetic forms of auditory neuropathy. This information helps differentiate it from other types of hearing loss and informs more accurate prognoses and treatment plans. Additionally, genetic testing provides valuable insights for genetic counseling, enabling affected individuals and their families to understand inheritance patterns, assess the risk of transmission to future offspring, and consider appropriate interventions.
What is the Program?
In partnership with Decibel Therapeutics, Amplify™ is a no-charge genetic testing program for children diagnosed with auditory neuropathy. Amplify™ strives to remove barriers to genetic diagnosis for patients born with auditory neuropathy.
This program is available to patients in the U.S. (requirements below must be met for the patient to be eligible):
Collect a specimen in the collection tube. For information on ordering specimen kits, see Specimen Collection and Shipping section.
Program Information
The Amplify Genetic Testing Program by Decibel Therapeutics is designed to enhance the diagnosis and understanding of specific genetic conditions. It offers comprehensive genetic screening and analysis to detect genetic variants that contribute to or cause these conditions, helping healthcare providers tailor more effective treatment plans.
This program is tailored for individuals who have symptoms suggestive of a genetic disorder or have a family history indicating a risk of inherited diseases. Eligibility typically requires a referral from a healthcare provider who can provide clinical justification for the testing.
The program includes a range of genetic tests such as whole exome sequencing, targeted gene panels, and SNP arrays, depending on the suspected genetic condition. The specific tests are chosen based on the latest scientific research and clinical guidelines to ensure comprehensive coverage of potential genetic factors.
Patients need to be referred by their healthcare provider, who can submit an application on their behalf. The application should include detailed medical and family history, along with the necessary consent forms and any prior genetic test results if available.
Participants in the Amplify program can benefit from early and precise diagnosis of genetic conditions, which is crucial for effective treatment and management. Additionally, understanding the genetic basis of a condition can help with family planning and risk assessment for family members.
Results are generally provided within several weeks from the date the sample is received. The specific timeframe can vary depending on the complexity of the genetic analysis and the volume of testing being conducted.
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