Inherited Retinal Dystrophy:
Vision Genome Program

Blueprint Genetics and Novartis collaborate to offer rapid, high-quality, no-cost genetic testing to individuals with a clinical diagnosis of inherited retinal dystrophy (IRD).

This program is for individuals in Australia and is available for patients who have a clinical suspicion of Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa.

Why select the Vision Genome Program for your patient?

  • Blueprint Genetics Retinal Dystrophy panel includes 351 genes. It is one of the most comprehensive and high-quality IRD tests on the market and includes:
  • Excellent coverage of the difficult-to-sequence RPGR gene, particularly the ORF15 region, which explains 70%-90% of cases of X-linked retinitis pigmentosa
  • High resolution detection of copy number variants (CNVs), maximizing the diagnostic potential for your patient. According to our research, approximately 5% of all patients with IRD have a CNV that would not be detected by sequencing alone
  • Clinically relevant noncoding variants (not included in most available IRD genetic tests)
  • The entire mitochondrial genome (not included in most available IRD genetic tests)

Benefits for your patient

  • This test is specifically designed for IRD. It is one of the most accurate, scientifically advanced, and highest quality genetic tests available to patients today
  • A genetic diagnosis can lead to personalised treatment and medical management
  • Testing may identify family members who are at risk of developing IRD.
  • Testing through this program provides rapid genetic testing at no-cost to your patient or health care system


How do I order Vision Genome testing for my patient?

  • Contact your local representative to be enrolled as a provider
  • Complete the program’s custom paper requisition form; for assistance with ordering, contact or your local representative
  • Obtain the signed Genetic Testing Program Informed Consent from the patient or patient’s parent/legal guardian
  • We offer sample collection kits (Saliva or Blood) with prepaid return labels. Kits can be ordered by emailing our customer support at When ordering sample collection kits to be shipped to your clinic or directly to your patient’s home, please indicate Vision Genome IRD Testing Program
  • The ordering healthcare provider will be notified by email when the results are ready

Who is eligible for testing?

Patients are eligible if they:

  • Have a clinical suspicion of Lebers Congenital Amaurosis (LCA) or Retinitis Pigmentosa
  • Live in Australia

(Please note this test is not a screening tool and must not be used for attempted molecular diagnosis of: macular degeneration, age-related macular degeneration, glaucoma, optic neuropathy, cornea/anterior chamber disease, diabetic eye disease, and nongenetic ocular or retinal damage diagnosis not listed in the requisition.)


Data protection and sharing

  • The genetic testing provider, Blueprint Genetics, will only share deidentified patient data with the partner of the program. Data is limited to the clinical diagnosis, age range, sex, and genes and variants associated with IRD. No patient identifiable information or raw sequence data will be shared
  • We may share information on the healthcare provider taking care of the patient, such as contact information
  • Blueprint Genetics may use the samples and data internally to improve the understanding and diagnostics of IRD. No samples or identifiable research data will be shared with third parties without express permission from the patient
  • Eligible patients who wish to participate in the no-cost genetic testing program are required to provide Informed Consent. A Consent form is included in the sample collection kit or may be obtained by contacting our customer support at

About Blueprint Genetics

Blueprint Genetics is a genetic testing company focused on human rare disease, performing genetic testing for thousands of epilepsy patients annually. With a patient-first mindset, the company has developed innovative genetic testing technologies to increase the diagnostic yield for patients with inherited disorders. Blueprint Genetics is a CLIA certified, CAP accredited, ISO15189 accredited next generation sequencing laboratory and all offered panels have CE IVD marking. More information can be found at:

About Novartis

Novartis’ purpose is to reimagine medicine to improve and extend people’s lives. Novartis uses science-based innovation to address some of society’s most challenging healthcare issues. Novartis discovers and develops breakthrough treatments and finds new ways to deliver them to as many people as possible. In addition, the company aims to provide a shareholder return that rewards those who invest their money, time, and ideas in their company. Novartis’ vision is to be become the most valued and trusted medicines company in the world. To learn more about Novartis, please visit:

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Last modified: October 13, 2022