DNA icon

Autosomal Recessive Retinitis Pigmentosa 66 (RP66) via the RBP3 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
13079 RBP3 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
13079RBP381479 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) represents a group of hereditary retinal dystrophies with a worldwide prevalence of ~1 in 4,000 (Booij et al. 2005. PubMed ID: 16272259). 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. PubMed ID: 10025514).

RBP3-associated RP has onset of central vision loss in adult life with or without night blindness. The disease onset ranged from 32 to 60 years of age (den Hollander et al. 2009. PubMed ID: 19074801). A different study reported that the affected individuals presented childhood onset high myopia symptoms at a much younger age (8–14 years) (Arno et al. 2015. PubMed ID: 25766589).

Genetics

Pathogenic variants in RBP3 (alternatively known as IRBP) have been documented causative for autosomal recessive Retinitis pigmentosa (Arno et al. 2015. PubMed ID: 25766589; den Hollander et al. 2009. PubMed ID: 19074801). To date, ~20 pathogenic variants (missense, nonsnse and small frameshift deletions) in RBP3 have been associated with RP (Human Gene Mutation Database; Arno et al. 2015. PubMed ID: 25766589; den Hollander et al. 2009. PubMed ID: 19074801). No de novo pathogenic variants have been reported.

RBP3 encodes Interphotoreceptor retinoid-binding protein (IRBP). The IRBP protein greatly enhances the conversion of all-trans-retinol to 11-cis-retinaldehyde by the retinal pigment epithelium (RPE) in the visual cycle. IRBP also facilitates the removal of 11-cis-retinaldehyde from the RPE (Edwards and Adler. 2000. PubMed ID: 10655150; Qtaishat et al. 2005. PubMed ID: 15935345). Mouse model studies demonstrated that the absence of RBP3 leads to loss of photoreceptor nuclei and changes in the structural integrity of the receptor outer segments at postnatal day 11. At 30 day of age, the photoreceptor abnormalities were more severe. These results suggest that the absence of RBP3 gene results in a slowly progressive degeneration of retinal photoreceptors (Liou et al. 1998. PubMed ID: 9614228). A different study showed that the insertion of the HEL (hen egg lysozyme) transgene in the photoreceptor membrane disrupted the normal photoreceptor function, which was associated with the reduced levels of soluble IRBP protein (Liu et al. 2018. PubMed ID: 29571629). RBP3 has been cited as a nonessential gene for growth of human tissue culture cells (Online Gene Essentiality, ogee.medgenius.info).

Clinical Sensitivity - Sequencing with CNV PGxome

Less than 1% of RP cases are due to pathogenic variants in RBP3 (Fahim et al. 1993. PubMed ID: 20301590).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This test provides full coverage of all coding exons of the RBP3 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 RP are candidates. Targeted testing is indicated for family members of patients who have known pathogenic variants in RBP3. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in RBP3.

Gene

Official Gene Symbol OMIM ID
RBP3 180290
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Retinitis Pigmentosa 66 AR 615233

Citations

  • Arno et al. 2015. PubMed ID: 25766589
  • Booij et al. 2005. PubMed ID: 16272259
  • den Hollander et al. 2009. PubMed ID: 19074801
  • Edwards and Adler. 2000. PubMed ID: 10655150
  • Fahim et al. 2017. PubMed ID: 20301590
  • Human Gene Mutation Database (Bio-base).
  • Liou et al. 1998. PubMed ID: 9614228
  • Liu et al. 2018. PubMed ID: 29571629
  • Online Gene Essentiality (OGEE).
  • Qtaishat et al. 2005. PubMed ID: 15935345
  • van Soest et al. 1999. PubMed ID: 10025514

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

loading Loading... ×

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: $
×
Copy Text to Clipboard
×