TEST CODE: 008839

DIAGNOSTIC TEST FOR: OPHTHALMOLOGY

TURNAROUND TIME: 10–21 calendar days (14 days on average)

PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube

ALTERNATE SPECIMENS: DNA or saliva/assisted saliva

Genetic testing for Ophthalmology

Our panels include over 3,900 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases. Blueprint Genetics also participates in a program providing no-cost, high quality genetic testing to patients with an inherited retinal disease in the United States.

Genetic testing for eye disorders is becoming an increasingly useful diagnostic tool, especially considering the promising developments in gene therapy in this field. A number of therapies are now in clinical trials, and gene therapy is quickly becoming a reality for patients with inherited retinal diseases (PMID: 24439297, 26835369, and https://clinicaltrials.gov).

The broadest group of diseases covered by our panels are retinal dystrophies, including retinitis pigmentosa, cone rod dystrophy, macular dystrophies, congenital stationary night blindness, Leber congenital amaurosis, achromatopsia, flecked retina disorders, and vitreoretinopathies. The panels also cover syndromes with ophthalmologic manifestations, such as Usher syndrome and Bardet-Biedl syndrome.

What genetic diagnostics can be offered to patients with ophthalmology cases?

Retinal dystrophies are characterized by remarkable genetic heterogeneity and significant phenotypic overlap between related conditions. Molecular genetic diagnostic testing is the most efficient way to subtype these diseases. High quality testing combined with clinical interpretation provide the necessary information to confidently make individualized treatment and management decisions.

In addition to its value in making a clinical diagnosis, genetic diagnosis is key to understanding the inheritance pattern and prognosis of each disease. Genetic diagnosis can also help in genetic counseling and family planning. Additionally, a potential benefit of genetic diagnosis is the opportunity to access novel therapies.

What are the benefits of genetic testing?

Genetic testing produces information that may help you or your healthcare provider:

– establish or confirm your specific diagnosis 


– provide an explanation of the underlying cause 
of your heart condition

– uncover potential risk of developing an underlying, multi-system condition that affects more than your heart 


– make informed medical decisions and provide an opportunity to start risk reduction strategies

– identify other at-risk relatives for whom genetic testing is recommended 


– make informed family planning decisions 


Genomed's Opthalmology panels

CLINICAL AREA: EYE DISORDERS

– Inherited Retinal Disorders Panel

– Aniridia Test

– Axenfeld-Rieger Panel

– Bardet-Biedl Syndrome Panel

– CHARGE Syndrome Test

– Choroideremia Test

– Congenital Cataracts Panel

– Duane-Radial Ray Syndrome Test

– Early-Onset Glaucoma Panel

– Leber Congenital Amaurosis Panel

– Microphthalmia/Anophthalmia Disorders Panel

– Oculo-Facio-Cardio-Dental Syndrome Test

– Retinoblastoma Test

– Senior-Loken Syndrome Panel

Please contact us for the complete list of genes included on the multi-Opthalmology panel and associated conditions.

What are the potential results?

A POSITIVE TEST RESULT CAN:

If testing identifies a variant associated with heart disease, consult with your healthcare provider to create a management plan and to identify relatives who may need to be tested.

A NEGATIVE TEST RESULT:

If testing identifies no variants associated with a hereditary heart disease, the underlying cause of your heart condition remains unknown. As our knowledge of genetics improves, additional genetic testing may become available.

AN UNCERTAIN VARIANT TEST RESULT:

In some cases, testing can identify a variant, but it is not known at this time whether the variant is associated with heart disease. If new information about your family history of heart conditions becomes available, this could change what your test results mean for you and your relatives. Always let your healthcare provider know if there are any updates regarding your family medical history.

Take action based on your results.

With Genomed, you can make health decisions based on your results. Our medical-grade tests are the same tests used by doctors and genetic counselors. Based on your results, you can work with your healthcare provider to consider:

– increased or earlier screenings

– lifestyle modifications

– early intervention to prevent the onset of disease