Autosomal Recessive Retinitis Pigmentosa via the EYS Gene
Summary and Pricing 
Test Method
Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 4913 | EYS | 81479 | 81479,81479 | $990 | Order Options and Pricing |
Pricing Comments
Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.
Turnaround Time
3 weeks on average for standard orders or 2 weeks on average for STAT orders.
Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.
Targeted Testing
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
Clinical Features and Genetics
Clinical Features
Retinitis pigmentosa (RP) or rod cone dystrophies (RCDs) represent a group of hereditary retinal dystrophies with a worldwide prevalence of ~1 in 4,000 (Booij et al. 2005). RP is clinically characterized by retinal pigment deposits visible on fundus examination, nyctalopia ("night blindness"), followed by progressive degeneration of the photoreceptors, which eventually leads to blindness (van Soest et al. 1999).
Genetics
Nonsyndromic RP is remarkably heterogeneous both clinically and genetically and exhibits autosomal dominant (AD), autosomal recessive (AR) or X-linked (XL) inheritance. To date, over 50 loci have been linked to nonsyndromic RP and 18, 27 and 2 genes have been identified that are involved with AD RP, AR RP, and XL RP, respectively (RetNet). Pathogenic variants in EYS have been documented causative for AR RP (Ruiz et al. 1998). EYS (eyes shut) encodes a Drosophila spacemaker (SPAM) protein that is localized to the photoreceptor layer. SPAM helps in maintaining the integrity of the photoreceptor cells in human retina (Abd El-Aziz et al. 2008). Nearly 200 pathogenic variants (missense, nonsense, splicing, small deletions and duplications, gross deletions and duplications) have been reported in EYS-associated retinal disorders (The Human Gene Mutation Database).
Clinical Sensitivity - Sequencing with CNV PG-Select
Mutation screening in 100 Japanese autosomal recessive retinitis pigmentosa (AR RP) patients identified EYS causative variants in 18% (Hosono et al. 2012). A Homozygosity mapping study reported that 10%-20% of Spanish families affected by typical AR RP could have linkage to the EYS locus (Ruiz A et al. 1998).
Testing Strategy
This test provides full coverage of all coding exons of the EYS gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.
Indications for Test
All patients with symptoms suggestive of Retinitis pigmentosa are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in EYS.
All patients with symptoms suggestive of Retinitis pigmentosa are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in EYS.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| EYS | 612424 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Retinitis Pigmentosa 25 | AR | 602772 |
Related Test
| Name |
|---|
| Retinitis Pigmentosa Panel |
Citations
- Abd El-Aziz M.M. et al. 2008. Nature Genetics. 40: 1285-7. PubMed ID: 18836446
- Booij J.C. et al. 2005. Journal of Medical Genetics. 42: e67. PubMed ID: 16272259
- Hosono K. et al. 2012. Plos One. 7: e31036. PubMed ID: 22363543
- Human Gene Mutation Database (Bio-base).
- RetNet
- Ruiz A. et al. 1998. American Journal of Human Genetics. 62: 1452-9. PubMed ID: 9585594
- Van Soest S., Westerveld A. 1999. Survey of ophthalmology. 43: 321-34. PubMed ID: 10025514
Ordering/Specimens
Ordering Options
We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.
myPrevent - Online Ordering
- The test can be added to your online orders in the Summary and Pricing section.
- Once the test has been added log in to myPrevent to fill out an online requisition form.
- PGnome sequencing panels can be ordered via the myPrevent portal only at this time.
Requisition Form
- A completed requisition form must accompany all specimens.
- Billing information along with specimen and shipping instructions are within the requisition form.
- All testing must be ordered by a qualified healthcare provider.
For Requisition Forms, visit our Forms page
If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.
Specimen Types
Specimen Requirements and Shipping Details
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ORDER OPTIONS
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2) Select Additional Test Options
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