A program delivering no-cost, high-coverage diagnostic testing and optional genetic counseling for individuals of any age affected by auditory neuropathy.
High-coverage genetic testing
- The Resonate Program Panel, offered within this program by Blueprint Genetics, is a carefully curated 288-gene panel targeting relevant genes associated with auditory neuropathy
- This comprehensive, high-coverage panel is designed to detect small and large CNVs, 132 known pathogenic deep intronic variants, and the entire mitochondrial genome
- This panel covers STRC, a difficult-to-sequence gene, which is not routinely included in other commercially available auditory neuropathy panels. STRC is responsible for almost 10% of hearing loss diagnoses based on our internal patient population
Order this panel directly through Nucleus, request a sample collection kit for your patient, or download the program requisition form
Comprehensive genetic counseling
- Upon request by the ordering clinician in Nucleus, our online ordering system, the Resonate Program includes complimentary post-test genetic counseling services through InformedDNA
- InformedDNA will review the patient’s medical and family history, provide an interpretation of any genetic variants resulted by Blueprint Genetics and their correlation with disease, as well as discuss any medical management recommendations
- Following the session, a formal summary report and a detailed pedigree will be provided to the patient and their clinician
Eligibility for no-cost testing
Qualifying patients must meet the following criteria:
- They have a current or prior clinical diagnosis of auditory neuropathy or a medical history consistent with auditory neuropathy; and
- OAE and/or CM is present, or previously present; and
- They do not have evidence of a syndromic medical history
Please note that when these eligibility criteria are met, the cost of testing will be covered by our program sponsor.
Informed consent and data sharing
Eligible individuals who wish to participate in the Resonate Program are required to provide Informed Consent, download the consent form here.
- The genetic testing provider, Blueprint Genetics, will only share deidentified data with the program sponsor
These data are limited to the clinical diagnosis or diagnoses, year of birth, sex, and genes and variants
associated with a clinical diagnosis of auditory neuropathy. No identifiable information or raw sequence data from program participants will be shared - We may share information about the ordering healthcare provider, such as contact information, with the program sponsor
- Blueprint Genetics may use the samples and data internally to improve the understanding and diagnostics of genetic forms of hearing loss. No samples or identifiable research data will be shared with third parties without express permission from the participant
- Information from optional genetic counseling sessions is not shared with the program sponsor
About the program sponsor, Akouos
Akouos is a precision genetic medicine company dedicated to developing gene therapies with the potential to restore, improve, and preserve high-acuity physiologic hearing for individuals living with disabling hearing loss worldwide. Leveraging its precision genetic medicine platform that incorporates a proprietary adeno-associated viral (AAV) vector library and a novel delivery approach, Akouos is focused on developing precision therapies for forms of sensorineural hearing loss. Headquartered in Boston, Akouos was founded in 2016 by leaders in the fields of neurotology, genetics, inner ear drug delivery, and AAV gene therapy. www.akouos.com
About Blueprint Genetics
Blueprint Genetics is a genetic testing company focused on inherited diseases. With a patient-first mindset, we deliver high-quality genetic testing to the global clinical community across 14 medical specialties. By combining a state-of-the-art laboratory process, the latest sequencing technology, AI empowered data-crunching tools and techniques, world-class professionals, and a holistic customer experience approach, we are bringing genetic knowledge to mainstream healthcare while providing answers that can guide targeted treatment and individualized care for patients. Blueprint Genetics is based in Helsinki and Marlborough, with a customer base spanning over 70 countries. For more information, visit www.blueprintgenetics.com.
Copyright © 2022 Blueprint Genetics. All trademarks are property of their respective owners. RESONATE is a trademark of Akouos, Inc.