Autosomal Dominant Retinitis Pigmentosa via the SNRNP200 Gene
Summary and Pricing
Test Method
Exome Sequencing with CNV DetectionTest Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
---|---|---|---|---|---|
4927 | SNRNP200 | 81479 | 81479,81479 | $990 | Order Options and Pricing |
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) or rod cone dystrophies (RCDs) represent a group of hereditary retinal dystrophies with a worldwide prevalence of ~1 in 4000 (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 SNRNP200 have been documented to cause AD RP (Zhao et al. 2006; Zhao et al. 2009). In vitro studies suggest that the SNRNP200-encoded protein [hBrr2, a U4/U6-U5 small nuclear ribonucleoprotein (snRNP) complex of the spliceosome] is involved in the unwinding of U4/U6 snRNAs during spliceosome activation and for disassembly of the spliceosome (Zhao et al. 2009). So far, over 15 pathogenic variants (missense and splicing) have been reported in SNRNP200-associated RP (The Human Gene Mutation Database).
Clinical Sensitivity - Sequencing with CNV PGxome
Due to phenotypic and genotypic heterogeneity, estimation of clinical sensitivity is difficult. Mutation screening in a four-generation family identified a causative SNRNP200 variant in all affected family members (14) and that variant was absent in the unaffected family members and 100 normal control subjects (Liu et al. 2012).
Testing Strategy
This test provides full coverage of all coding exons of the SNRNP200 gene 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 full 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.
Gene
Official Gene Symbol | OMIM ID |
---|---|
SNRNP200 | 601664 |
Inheritance | Abbreviation |
---|---|
Autosomal Dominant | AD |
Autosomal Recessive | AR |
X-Linked | XL |
Mitochondrial | MT |
Disease
Name | Inheritance | OMIM ID |
---|---|---|
Retinitis Pigmentosa 33 | AD | 610359 |
Related Tests
Name |
---|
Leber Congenital Amaurosis Panel |
Retinitis Pigmentosa Panel |
Citations
- Booij J.C. et al. 2005. Journal of Medical Genetics. 42: e67. PubMed ID: 16272259
- Human Gene Mutation Database (Bio-base).
- Liu T. et al. 2012. Plos One. 7: e45464. PubMed ID: 23029027
- RetNet
- Van Soest S., Westerveld A. 1999. Survey of ophthalmology. 43: 321-34. PubMed ID: 10025514
- Zhao C. et al. 2006. Human Genetics. 119: 617-23. PubMed ID: 16612614
- Zhao C. et al. 2009. American Journal of Human Genetics. 85: 617-27. PubMed ID: 19878916
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
ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.