Autosomal Dominant Retinitis Pigmentosa (RP) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
4309 BEST1 81406,81479 Order Options and Pricing
C1QTNF5 81479,81479
CA4 81479,81479
CRB1 81406,81479
CRX 81404,81479
EMC1 81479,81479
EYS 81479,81479
FSCN2 81479,81479
GUCA1B 81479,81479
IMPDH1 81479,81479
KLHL7 81479,81479
LCA5 81479,81479
NR2E3 81479,81479
NRL 81479,81479
PDE6B 81479,81479
PITPNM3 81479,81479
PRKCG 81406,81479
PRPF3 81479,81479
PRPF31 81479,81479
PRPF6 81479,81479
PRPF8 81479,81479
PRPH2 81404,81479
RHO 81404,81479
ROM1 81479,81479
RP1 81404,81479
RPE65 81406,81479
SEMA4A 81479,81479
SNRNP200 81479,81479
TOPORS 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
4309Genes x (29)81479 81404, 81406, 81479 $890 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 PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

All patients with symptoms suggestive of Retinitis pigmentosa are candidates.

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.

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

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ORDER OPTIONS

View Ordering Instructions

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.

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