Get Genetic Testing for Usher Syndrome

Usher Syndrome Genetic Testing Q&A

Unraveling USH: An Usher Syndrome Genetic Testing Initiative

This section is a compilation of answers to the questions most commonly asked about genetic testing for Usher syndrome. Follow the links below for detailed answers. If you can’t find the question you wanted to ask, don’t hesitate to contact us at info@usher-syndrome.org.

  1. Why is genetic testing important?

    Genetic testing is the only way to get a definitive diagnosis of Usher syndrome. A genetic diagnosis will reveal the genetic subtype (USH1b, USH2a, USH3, etc.) of Usher syndrome. This information is often needed for participation in clinical trials, as many of the treatments in the research pipeline will depend upon knowing the exact genetic mutation and type of Usher one has.

    A diagnosis through genetic testing can also give a better sense of the progression, leading to improved decisions about management and potential treatment.

    Genetic testing can provide an individual or the parents of a child with the satisfaction of understanding the cause of certain physical issues. It can also be useful when making reproductive choices because once a genetic cause is identified, it is then possible to predict the likelihood that future children of that person will also have Usher syndrome. In general, how people use genetic information will vary widely depending upon individual perspectives about hearing loss, religious beliefs, and other factors.

  2. How long will it take to get results?

    Testing will be done in 2 “tiers.” The first tier will test for the most common genetic causes of Usher syndrome, and will take approximately 4 months to complete. Approximately half of all patients will receive a positive result with the first tier of testing.

    However, if that is negative, and you have given your consent for additional testing, the lab will then begin “tier 2” testing. The results of the second tier of testing can take up to an additional year to complete.

  3. I participated in a genetic testing research program in the past, and I never got results back. How can I be sure that this program will be different?

    In the past, many patients with Usher syndrome participated in genetic research studies. Some of those individuals received results, but many did not. Those research studies were incredibly important in helping to identify the genes associated with Usher syndrome. However, many individuals and families who participated were frustrated to not receive results.

    The current Usher Syndrome Genetic Testing Initiative is not a research program. Genetic testing is being performed on a clinical basis. The lab at the University of Iowa is required to issue a formal report with results.

  4. Do I have to have a physician order the test? Or can I just contact the lab myself?

    Yes, you must have a physician involved in your care order the genetic test. The ordering physician can be a retina specialist, general ophthalmologist, or even your primary health care physician. Genetic testing can also be ordered by a genetic counselor, but she or he must be in communication with your physician. An information sheet for physicians, describing the Usher Syndrome Genetic Testing Initiative, can be found here.

  5. The Carver Lab of the Institute for Vision Research at University of Iowa will not bill insurance companies directly. They are a nonprofit lab, and one of the ways that they keep their costs low is by avoiding the billing issues inherent in dealing with insurance. Patients who pursue genetic testing through this program must provide payment with a check or credit card, and then submit an invoice to their insurance company with a request for reimbursement.

    Insurers sometimes pay for genetic testing. Since most insurance companies do not have a stated policy about genetic testing, though, each case is reviewed on an individual basis. Insurers are more likely to pay for genetic testing if the ordering physician or genetic counselor submits documentation of medical necessity. This form can be used to assist you in trying to obtain insurance reimbursement for your testing.

  6. Is there any way to predict if my insurance will pay for genetic testing prior to ordering it?

    If you want to determine whether or not your insurance company will cover genetic testing, you can contact them in advance. The following codes will likely be necessary in order for your insurance company to check eligibility for benefits:

    Genetic test codes for Usher syndrome genetic testing at the University of Iowa Carver testing lab:
    81400, 81407, 81408, 81479

    Diagnosis codes:
    Retinitis pigmentosa: ICD9: 362.74/ ICD10: H35.52
    Bilateral Hearing Loss: ICD9: 389.9/ ICD10: H91.93

    A physician or genetic counselor can also help you to prepare a preauthorization request for genetic testing to your insurance company in advance of testing.

  7. The American Academy of Ophthalmology recommends genetic testing and genetic counseling for ALL patients with inherited retinal disease. Genetic counseling for inherited retinal diseases can be obtained in person at a retinal dystrophy clinical center or genetics clinic, or by phone via InformedDNA. In all cases, the cost of genetic counseling may or may not be covered by insurance, and will be a separate charge from genetic testing.

    Genetic Counseling Resources:

    • Retinal Dystrophy Clinical Centers supported by the Foundation Fighting Blindness (listed under FFB Research Center Awards). All have genetic counselors and/or physicians who provide ocular genetic counseling.
    • In addition to these clinical research centers, the Foundation Fighting Blindness maintains a list of retina specialists interested in caring for patients with inherited retinal diseases.
    • The National Society of Genetic Counselors is a searchable website for in-person genetic counselors. Note that most genetic counselors working in a medical center genetics clinic do not specialize in inherited retinal diseases, but can help to order and interpret genetic testing for Usher syndrome.
    • InformedDNA: Telephone-based genetic counseling appointments by a Genetic Counselor who specializes in inherited retinal diseases, including Usher syndrome.

  8. Can I get tested at another lab?

    Yes, of course. We're partnering with Carver Lab for this initiative, but you're welcome to get tested anywhere. The important thing is to add your results to the USH Trust Registry. The USH Trust is currently available in English, Spanish, Hebrew, Dutch and German.

    Labs performing Usher syndrome genetic testing in the United States:
    Partners Healthcare, Harvard Medical Center
    GeneDx
    Prevention Genetics
    Baylor Genetics Labs
    Casey Eye Institute Molecular Diagnostics

    Genetic testing for Usher syndrome is also available through some labs outside of the United States.

  9. Most genetic tests are performed on a DNA sample. Because every tissue in the body is made of cells that contain DNA, any tissue can be used as a source of DNA. However, a blood test is the most common source because it can easily be obtained in large quantities...

  10. Yes, the Carver Lab accepts samples from outside the United States. Simply follow these instructions to participate.

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