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Autosomal Dominant Retinitis Pigmentosa via the SNRNP200 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
4927 SNRNP200 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
4927SNRNP20081479 81479,81479 $890 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 backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

Turnaround Time

18 days on average for standard orders or 13 days 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Dana Talsness, PhD

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.

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 (includes RPGR ORF15) 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


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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