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Autosomal Recessive Retinitis Pigmentosa 36 (RP36) via the PRCD 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
9071 PRCD 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9071PRCD81479 81479,81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information.

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).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

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 adRP, arRP, and XLRP, respectively (RetNet).

Bi-allelic pathogenic variants in PRCD (Progressive rod-cone degeneration) are involved in late-onset retinitis pigmentosa (RP36). Bull's eye maculopathy seems to be a hallmark of PRCD-associated RP (Pach et al. 2013; Zangerl et al. 2006). PRCD encoded protein possibly plays a role in photoreceptor structure or metabolism unique to vertebrate visual cells. Immunocytochemical subcellular localization experiments have shown that the mutant form of the protein exhibits a distinct pattern of localization into spherical profiles within the cytoplasm. This altered localization might impair the interactions with other proteins in affected patients (Zangerl et al. 2006). So far, about 5 pathogenic variants (missense and nonsense) have been associated with arRP36 (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

PRCD pathogenic variants account for nearly 1% of late-onset Retinitis Pigmentosa (RP) cases (Beheshtian et al. 2015). A study that screened 24 RP patients from an Israeli Muslim Arab village identified a homozygous nonsense PRCD variant (c.64C>T, p.R22*), which suggests a founder effect (Nevet et al. 2010). The same variant was also found in a Persian family with the late-onset non-syndromic arRP (Beheshtian et al. 2015).

Testing Strategy

This test provides full coverage of all coding exons of the PRCD 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 arRP especially patients with bull's eye maculopathy, and relatives of patients with known PRCD pathogenic variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in PRCD.

Gene

Official Gene Symbol OMIM ID
PRCD 610598
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Retinitis Pigmentosa 36 AR 610599

Related Tests

Name
Autosomal Recessive Retinitis Pigmentosa 26 (RP26) via the CERKL Gene
Retinitis Pigmentosa (includes RPGR ORF15) Panel

Citations

  • Beheshtian M. et al. 2015. Archives of Iranian Medicine. 18: 776-85. PubMed ID: 26497376
  • Booij J.C. et al. 2005. Journal of Medical Genetics. 42: e67. PubMed ID: 16272259
  • Human Gene Mutation Database (Bio-base).
  • Nevet M.J. et al. 2010. Journal of Medical Genetics. 47: 533-7. PubMed ID: 20507925
  • Pach J. et al. 2013. Molecular Vision. 19: 1350-5. PubMed ID: 23805042
  • RetNet
  • Van Soest S., Westerveld A. 1999. Survey of ophthalmology. 43: 321-34. PubMed ID: 10025514
  • Zangerl B. et al. 2006. Genomics. 88: 551-63. PubMed ID: 16938425

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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