Project Usher Instructions

The major goal of Project Usher is to reach the estimated 20,000 individuals affected with Usher syndrome in the United States and offer them state of the art genetic testing to try to identify the specific genetic cause of their disease.

If we are to succeed in this ambitious undertaking, we believe strongly that it will be important for the doctors who currently care for these patients to be involved at every level of the effort. The Project Usher team is ready to support the patients' doctors in any way necessary to achieve the goals of the project, but, we believe that the patients' doctors must remain at the center of each patient's medical care. Thus, all individuals interested in participating in the project will be encouraged to do so through their existing physicians.

When ordering this nonprofit clinical test, a patient may express interest in learning about Usher syndrome research projects by checking a box on the order form. If this box is checked, members of the Project Usher team may contact the patient after the genetic test is complete and the report is sent to offer the patient the opportunity to participate in an appropriate research project. For example, patients with negative results may have the opportunity to participate in projects designed to find the remaining Usher genes while patients with positive results may have the opportunity to participate in projects designed to correlate clinical findings with specific genetic changes.

One of the fundamental goals of Project Usher is to make clinical genetic testing of Usher syndrome a standard of care. We are moving in that direction but since we are not able to bill insurance companies directly, it is most effective when patients and physicians work together to obtain payment for genetic testing. For individuals who do not have medical insurance and who cannot afford a molecular test, Project Usher will maintain a philanthropic fund that can support the testing of these individuals.

Patients and physicians may:
Download a letter to assist them in obtaining insurance coverage.
Download a form requesting financial assistance.

PARENTAL SAMPLES: Whenever possible, parental DNA Samples from the patient’s parents should also be sent at the same time the patient’s sample is sent. The parental DNA will be screened for all plausible disease-causing genetic variations that are identified in the patient to make sure that variations that we suspect to be responsible for the patient’s disease are inherited in the correct pattern. Screening of the parents is considered a standard part of the patient’s test and is performed at no additional charge.

• To send a sample to Carver Lab for genetic testing, click here: Request a genetic test

Instructions for submitting parental samples can be found in this FAQ.