Genetic Testing

Genetic testing is critical to the diagnosis and management of patients with inherited retinal diseases.

Genetic testing is critical to:

  • Confirming a clinical diagnosis and qualifying for participating in the trial
  • Determining inheritance for patients and families
  • Understanding the potential therapeutic implications of treatment
Refer a patient for genetic testing

No cost genetic testing program for patients with RP

Consider getting your patients tested for X-linked Retinitis Pigmentosa (XLRP) if they have experienced specific symptoms or have been clinically diagnosed with RP or XLRP.

This program provides comprehensive testing of the RPGR gene, which is the most common gene associated with XLRP, at no-cost.

Due to the complexity of the RPGR gene, many patients have not previously had access to appropriate RPGR testing. Although the RPGR gene is one of the most common mutations of XLRP, even some large panel tests exclude this gene.

Patients may qualify for no-cost RPGR genetic testing and genetic counseling if the following criteria are met:

  • Patient has a clinical diagnosis of retinitis pigmentosa (RP)
  • Patient is male
  • Patient is between the ages of 13 and 50 (inclusive)

NOTE: Patients do NOT need to have a family history of RP to qualify. Up to 15% of males with a diagnosis of RP and no family history have a causative genetic variant in the RPGR gene.

Why this genetic test for your eligible patients?

  • Patients will receive comprehensive testing of the RPGR gene.*
  • The genetic counselors working on this program are highly trained in the genetics of inherited retinal diseases.
  • There is no-cost to patients for genetic testing or genetic counseling.
  • Appointments occur over the phone, so families can participate regardless of location, with convenient at-home sample collection.
  • You remain your patient’s advocate. All referring providers and patients will receive a written summary of the findings and a copy of the genetic test result.

* Note that comprehensive panel testing is an appropriate test for many patients with inherited retinal dystrophies. For patients who do not meet criteria or have not previously undergone genetic testing, NGS-based panel testing is available through an open access genetic testing and genetic counseling program sponsored by the Foundation Fighting Blindness.

What happens when you refer a patient?


HCP Referral


Screening by ServaHealth


Referral to Genetic Counseling


Pre-test Genetic Counseling


Genetic Test Facilitation


Post-test Genetic Counseling

Discussion of Clinical Trial For patients who test postitive for a mutation in RPGR

8 7

ALL PATIENTS Summary Report Provided to patient and HCP

Treatments for retinitis pigmentosa (RP) are desperately needed. With your help, we can support this patient community AND identify patients who might qualify for ongoing and emerging clinical trials.