The Blueprint Genetics Albinism Panel is a 19 gene test for genetic diagnostics of patients with clinical suspicion of Hermansky-Pudlak syndrome, oculocutaneous albinism or Waardenburg syndrome.Read more
OphthalmologyWe offer comprehensive genetic diagnostics for all hereditary eye diseases, including retinal and corneal dystrophies, glaucoma, congenital cataract, developmental eye defects (e.g. anophthalmia, microphthalmia, and anterior segment dysgenesis), ocular albinism, optic neuropathies, and eye movement disorders.
Genetic testing for ophthalmology
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 offer for ophthalmology cases
Retinal dystrophies are characterized by remarkable genetic heterogeneity and significant phenotypic overlap between related conditions. Molecular genetic diagnostics are the most efficient way to subtype these diseases, and the provide the necessary information to make confident 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.
A selection of our ophthalmology panels
The Blueprint Genetics Hereditary Retinoblastoma Panel analyzes mutations in RB1 gene associated with inherited susceptibility to retinoblastoma.Read more
Find the right test for your patient
Published on June 1, 2017
We are excited to announce the latest updates to our test menu. We have added some deep intronic and non-coding variants to the tested target regions that have been reported as pathogenic in the literature and are classified as likely pathogenic or pathogenic in ClinVar. These include for example the recurrent…Read more
Published on June 15, 2017
There is a significant completion to drive down the price and TAT of genetic diagnostics. To survive in this competition, laboratories have to either rigorously innovate or then make compromises in quality and performace standards. In an untransparent diagnostic environment, health care professionals have a hard time to evaluate optimal and best testing for their patients.
Looking for transparency Dr. Tero-Pekka Alastalo discusses how sequencing technologies and the chosen strategy in a lab can define quality and yield, highlighting bioinformatics and interpretation as being the biggest challenges in the current market. He also discusses what can make a lab transparent in its services and what is…See more