Retinal Dystrophy Screening



PCR amplification of the entire coding regions of mostly non-syndromic genes associated with RP, CRD, LCA, CSNB, Achromatopsia, USHER, Stargardt, Macular dystrophy, BBS, and more (clients are welcome to suggest additional genes) and Next Generation Sequencing by MiSeq. 

Retinal Dystrophy Panel Gene List

Our goal: 

To offer a test with the best clinical utility and the most affordable price for most patients with inheritable non-syndromic retinal dystrophy. This test is designed to offer the most comprehensive coverage of non-syndromic genes associated with inheritable retinal dystrophy. A few syndromic genes associated with retinal dystrophy are also included in order to maximize returns. 

About our NGS testing:

We have been using PCR based approach in the last several years started with Sanger sequencing and now with our NGS testing. We believe PCR is still the gold standard in molecular diagnosis. We believe a PCR primer library for the entire genes tested is essential no matter which enrichment method is used. We always confirm mutations and novel variations identified by re-PCR and Sanger sequencing. We fill in gaps below threshold by re-PCR and Sanger sequencing. Our extensive PCR primer library and our extensive experience with primer design makes up unique. And we always test parents with no additional charge. 

About this new test: 

This new test is designed to be the first line tool to identify mutations for most patients. In essence, this new test is a combination of individual panels we currently offer with a high throughput set up. On average, our coverage is 97%. For condition specific panels we currently offer, we re-PCR and fill in the remaining 3%. However, it has been our experience that for patients with no mutations identified, the additional step does not improve mutation detection rate significantly. In order to maximize returns, for this new test, we will not close gaps. We will still confirm mutations and novel variations by Sanger and we will still test parents with no additional charge. There will be cases with only one mutation identified or with no mutation identified; a tier 2A assay by focusing on a specific gene or a tier 2B assay by fill in gaps will also be offered for clients interested.   

Why use our service: 

  • Years of experience with good reputation.
  • We work with our clients to advance their interests and those of their patients.
  • We have the largest proven PCR primer library for every gene involved with retinal dystrophy.
  • Parental testing is always free. Family members can be tested free for the purpose of confirming clinical significance of identified variations. 
  • For selection of sequencing targets, we use PCR – the gold standard and the surest select of targets.
  • Finding the genetic cause for disease is our passion. Research testing is available. Clinical reports are issued after research testing result is confirmed.
  • Samples testing negative are usually tested for newly identified genes with no additional charge. Reports are issued if mutations can be identified.
  • If our clients have their own research interests, we will only focus on offering the best clinical service we can; leaving the potential discovery work to our clients.