New Comprehensive Inherited Retinal Dystrophies Panel
As the leading provider in genetic testing for inherited eye disorders, we are excited to introduce our new 280 gene comprehensive inherited retinal dystrophies (IRD) panel for the same price as our previous IRD panel (107 genes). Because of genetic heterogeneity and phenotypic overlap, identifying the genetic cause of IRD is often challenging. This panel has been carefully curated to maximize clinical sensitivity and to achieve molecular diagnosis for IRDs.
PreventionGenetics’ comprehensive IRD panel is performed in a tiered manner. Testing is first performed on 107 genes. A study done by Glöcke et al. identified a molecular diagnosis in 55-80% of patients when sequencing 105 genes, all of which are included in the first tier of PreventionGenetics’ test (Glöckle et al. 2014). If conclusive or suspected results are not found in the first tier of 107 genes, the remaining 173 genes are analyzed. This tiered approach decreases the number variants of uncertain significance, making the results easier for patients to digest. Full gene lists for each tier of testing and details of our additional Sanger backfill and coverage of critical region RPGR Exon 15 can be found in our test description.
IRDs are the leading cause of blindness in the western world (1 in 3,000 people) (Sahel et al. 2014). According to the World Health Organization (WHO) and the American Academy of Ophthalmology (AAO), ~ 80% of blindness can be prevented or cured or the disease progression could be slowed if detected at early stages. Given these statistics, the importance of early and accurate diagnosis cannot be understated.
In addition to the comprehensive IRD panel, PreventionGenetics also offers panels for many other inherited eye disorders, including:
Congenital Stationary Night Blindness
Leber Congenital Amaurosis
Retinitis Pigmentosa, Dominant
Retinitis Pigmentosa, Recessive
Retinitis Pigmentosa, X-Linked
Stargardt Disease and Macular Dystrophies
Warburg Micro Syndrome
Presented by: Madhulatha Pantrangi, PhD
By the end of this presentation, participants will be able to:
1. Explain the importance of genetic testing in Ophthalmology.
2. Discuss different testing options for genetically and clinically heterogeneous IRDs.
3. Describe the benefits of PreventionGenetics' Comprehensive IRD Panel and understand the testing approach.
PreventionGenetics Partners with FDNA
PreventionGenetics has partnered with FDNA, the creators of the Face2Gene application, to sponsor the month of June in their year of discovery. For each vision case uploaded to Face2Gene in the month of June, PreventionGenetics will donate $1 to a the Bardet Biedl Syndrome Foundation.
We invite clinicians and patients to get involved with this initiative. Healthcare providers can simply upload current or past cases to Face2Gene. The Face2Gene system uses de-identified information from cases submitted to recognize new phenotypes, characteristics and genes, with an ultimate goal of increasing our understanding of rare disease.
For participation information, visit FDNA’s Year of Discovery.
For more information about FDNA and Face2Gene, visit FDNA.com.
Glöckle N. et al. 2014. European Journal of Human Genetics. 22: 99-104. PubMed ID: 23591405
Sahel J.A. et al. 2014. Cold Spring Harbor Perspectives in Medicine. 5: a017111. PubMed ID: 25324231