Genetic Counseling and Genetic Testing for Males with Retinitis Pigmentosa

male with retinitis pigmentosa
AGTC logo

The Applied Genetic Technologies Corporation (AGTC) has partnered with InformedDNA to provide genetic counseling and genetic testing to males between the ages of 13-50 years diagnosed with Retinitis Pigmentosa (RP). Eligible individuals receive genetic counseling and RPGR gene testing at no cost.

Following genetic testing, individuals may be invited to be screened as a possible participant in the Scenic Clinical Trial Program. The multicenter study will assess the safety, tolerability, and efficacy of AGTC-501, an investigational gene therapy designed to replace the mutated RPGR gene that causes X-linked RP.

What to Expect in a Genetic Counseling Appointment

The genetic counselors at InformedDNA working on this program are highly trained in ophthalmology genetics. Our appointments occur over the phone, so family members or friends may participate in the call, regardless of location. Appointments are available during usual business hours as well as evenings and weekends.

  • At the initial appointment, the genetic counselor will:
    • Collect medical history and a 3-4 generation family history
    • Discuss the underlying genetics of RP
    • Review the benefits and limitations of RPGR genetic testing
  • The genetic counselor will coordinate the test order and at-home sample collection
    • Results will be available in approximately two weeks from when the lab receives the sample
  • At the post-test appointment, the genetic counselor will:
    • Review the genetic test result and implications for personal health and risks to family members
    • Help to identify which family members may be good candidates for genetic testing and possible screening for the Vista Clinical Trial Program
    • Provide a written summary of the discussion and a copy of the genetic test result to the individual and their healthcare provider

Request An Appointment

  • Use our convenient online submission process to request an appointment for genetic counseling.
  • Or, call 866-218-7579 to speak with a member of our Patient Care team.

*This genetic counseling and testing program is sponsored by AGTC. No identifying information of individuals participating in this sponsored program will be shared with AGTC.

Solverwp- WordPress Theme and Plugin