Autosomal Dominant Retinitis Pigmentosa (RP) Panel
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Panel CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 4309 | Genes x (30) | 81479 | 81404(x4), 81406(x4), 81479(x52) | $990 | Order Options and Pricing |
Pricing Comments
We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).
Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).
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) represents a group of hereditary retinal dystrophies with a worldwide prevalence of ~1 in 4000 (Booij 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 and syndromic RP is remarkably heterogeneous both clinically and genetically and exhibits autosomal dominant (AD, 15%-25% of the cases), autosomal recessive (AR, 5%-20% of the cases) or X-linked (XL, 5%-15% of the cases) inheritance (Fahim et al. 2013). Unknown, simplex cases (single occurrence in a family) account for 40%-50% of cases and rarely digenic inheritance has been reported (Fahim et al. 2013). To date, over 80 genes have been linked to RP (RetNet; Daiger et al. 2007; Daiger et al. 2013; Audo et al. 2012; Neveling et al. 2012; Fu et al. 2013; Zhao et al. 2015; http://www.omim.org/; Human Gene Mutation Database), but likely more RP genes remain to be discovered (Daiger et al. 2010; Daiger et al. 2013; Perez-Carro et al. 2016).
The most common genes involved in AD RP are RHO (26-28% of RP cases), PRPF31/RP11 (5-8%), PRPH2/RDS (4-8%), RP1 (6%), IMPDH1 (1-3%), KLHL7 (0.5-1.5%), NR2E3 (0.5-1.5%), PRPF3/RP18 (1%), PRPF8/RP13 (3%), CRX (1%) and TOPORS (1%) (Fahim et al. 2013; Daiger et al. 2010; Sullivan et al. 2013).See individual gene test descriptions for more information on molecular biology of gene products.
Clinical Sensitivity - Sequencing with CNV PGxome
It is now possible to detect disease-causing pathogenic variants in about 56% of patients with AD RP (Daiger et al. 2010).
Genomic rearrangements in PRPF31 (causative for AD RP) are now known to account for 2.5% of AD RP (Sullivan et al. 2006). Copy number variants have also been reported in BEST1, CRB1, CRX, EYS, NR2E3, PDE6B, PRPF31, PRPH2, RHO and RPE65 (Human Gene Mutation Database).
Testing Strategy
This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.
This panel typically provides 99.9% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).
Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).
Indications for Test
All patients with symptoms suggestive of Retinitis pigmentosa are candidates.
All patients with symptoms suggestive of Retinitis pigmentosa are candidates.
Genes
| Official Gene Symbol | OMIM ID |
|---|---|
| BEST1 | 607854 |
| C1QTNF5 | 608752 |
| CA4 | 114760 |
| CRB1 | 604210 |
| CRX | 602225 |
| EMC1 | 616846 |
| EYS | 612424 |
| FSCN2 | 607643 |
| GUCA1B | 602275 |
| IMPDH1 | 146690 |
| IMPG1 | 602870 |
| KLHL7 | 611119 |
| LCA5 | 611408 |
| NR2E3 | 604485 |
| NRL | 162080 |
| PDE6B | 180072 |
| PITPNM3 | 608921 |
| PRKCG | 176980 |
| PRPF3 | 607301 |
| PRPF31 | 606419 |
| PRPF6 | 613979 |
| PRPF8 | 607300 |
| PRPH2 | 179605 |
| RHO | 180380 |
| ROM1 | 180721 |
| RP1 | 603937 |
| RPE65 | 180069 |
| SEMA4A | 607292 |
| SNRNP200 | 601664 |
| TOPORS | 609507 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Diseases
Related Test
| Name |
|---|
| PGxome® |
Citations
- Audo I. et al. 2012. Orphanet Journal of Rare Diseases. 7: 8. PubMed ID: 22277662
- Booij J.C. et al. 2005. Journal of Medical Genetics. 42: e67. PubMed ID: 16272259
- Daiger S.P. et al. 2007. Archives of Ophthalmology. 125: 151-8. PubMed ID: 17296890
- Daiger S.P. et al. 2010. Advances in Experimental Medicine and Biology. 664: 325-31. PubMed ID: 20238032
- Daiger S.P. et al. 2013. Clinical genetics. 84: 132-41. PubMed ID: 23701314
- Fahim A.T. et al. 2013. Retinitis Pigmentosa Overview. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(®), Seattle (WA): University of Washington, Seattle. PubMed ID: 20301590
- Fu Q. et al. 2013. Investigative Ophthalmology & Visual Science. 54: 4158-66. PubMed ID: 23661369
- http://www.omim.org/
- Human Gene Mutation Database (Bio-base).
- Neveling K. et al. 2012. Human Mutation. 33: 963-72. PubMed ID: 22334370
- Perez-Carro R. et al. 2016. Scientific Reports. 6: 19531. PubMed ID: 26806561
- Sullivan L.S. et al. 2006. Investigative Ophthalmology & Visual Science. 47: 4579-88. PubMed ID: 17003455
- Sullivan L.S. et al. 2013. Investigative ophthalmology & visual science. 54: 6255-61. PubMed ID: 23950152
- van Soest S. et al. 1999. Survey of Ophthalmology. 43: 321-34. PubMed ID: 10025514
- Zhao L. et al. 2015. Human Genetics. 134: 217-30. PubMed ID: 25472526
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
PGxome (Exome) Sequencing Panel
PGnome (Genome) Sequencing Panel
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ORDER OPTIONS
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2) Select Additional Test Options
No Additional Test Options are available for this test.