New in ophthalmology panels

Published on March 16, 2018

We are proud to introduce our new improved panels. Since March 1st, a total of 157 panels have been updated and 21 new panels launched. Among the updated panels are ophthalmology genetic diagnostic panels, where we have significant improvement of quality and performance of genetic diagnostic testing for patients with inherited eye disorders.

Retinal Dystrophy Panel

All the genes associated with inherited retinal diseases are included in the comprehensive panel (Retinal Dystrophy). We also cover pathogenic deep intronic variants in key genes, for example USH2A and ABCA4.

“For example, in the Retinal Dystrophy Panel, a diagnostic yield was 52% in the second half of 2017. We expect even higher results with the current update as this panel has grown from 181 genes to 266”, says Laboratory Director and Chief Medical Officer Juha Koskenvuo.

Corneal Dystrophy Panel

 The Corneal dystrophy panel was updated with 12 new genes, including several key genes such as UBIAD1 (UbiA prenyltransferase domain containing 1), causing Schnyder crystalline corneal dystrophy, but also a few recently characterized genes such as CHRDL1 (Chordin-like 1) causing X-linked megalocornea.

The panel now also includes GSN (gelsolin), a gene in which highly specific mutations cause a distinct type of corneal lattice dystrophy also known as Finnish type amyloidosis.

Upgraded technology since 2018

All panels are based on the Illumina NovaSeq sequencing technology that enables high-quality analysis of single nucleotide variants (SNVs), insertions and deletions (indels) and copy number variations (CNVs).

Improved diagnostic yield from difficult-to-sequence regions

Our technology is tailored to improve coverage in clinically relevant and challenging genes such as RPGR (ORF15) associated with a severe form of retinal degeneration. We have achieved a high diagnostic rate in internal clinical validation even at the most challenging part, the central region of RPGR ORF15”.

Read more here.

 

 

Last modified: 03.27.2018

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Difficult-to-sequence genes in ophthalmology: improved sequencing coverage and mapping quality in ORF15 enable unmatched diagnostic yield in XLRP

Published on April 30, 2018

Blueprint Genetics’ updated technology enables improved coverage and sensitivity in clinically relevant and challenging genes such as RPGR and especially the ORF15 region of this gene. Current next generations sequencing (NGS) strategies and standard Sanger sequencing do not adequately cover the RPGR ORF15 region, leading to poor sensitivity and decreased…

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