The John and Marcia Carver Nonprofit Genetic Testing Laboratory

Special instructions for Project 3000

The major goal of Project 3000 is to get in contact with all 3000 individuals affected with Leber Congenital Amaurosis 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 3000 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 the test, a patient may express interest in learning about LCA research projects by checking a box on the order form. If this box is checked, members of the Project 3000 team will 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 will have the opportunity to participate in projects designed to find the remaining LCA genes while patients with positive results will have the opportunity to participate in projects designed to correlate clinical findings with specific genetic changes. One of the fundamental goals of Project 3000 is to make clinical genetic testing of LCA a standard of care. We are moving in that direction but since we are not able to bill insurance companies directly, it is important for patients and physicians to work together to provide payment for genetic testing.

There are several options available. Patients and physicians may:

• Download a letter to assist them in obtaining insurance coverage.
• Download a form requesting financial assistance.
  Please note that financial assistance is available for Phase 1 testing only.

If neither of these payment options are viable, please contact the Carver Lab team. We would like to make testing for LCA available to all who seek it and are willing to help in any way feasible.

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.

When submitting parental samples, an online requisition is needed for each. Write "LCA Parental Sample: No additional charge" in the general comments section. When testing a patient for LCA, a delay in submitting parental samples may increase the estimated turnaround time by as many as 6–8 weeks.

You can start requesting a genetic test, or peruse our Project 3000 FAQ section for any additional questions.