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Retinitis Pigmentosa via the NR2E3 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
7767 NR2E3 81479 81479,81479 $990 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
7767NR2E381479 81479,81479 $990 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

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

Testing run on PG-Select capture probes does not include exome-wide CNV analysis. Reflex is available to PGxome or an exome-based panel, or you can use this gene list to create a custom panel (click here).

Click here for costs to reflex to whole PGxome.

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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Dana Talsness, PhD

Clinical Features and Genetics

Clinical Features

Nonsyndromic retinitis pigmentosa (RP, OMIM 268000) is a large group of inherited degenerative diseases of the retina characterized by abnormalities of the photoreceptors or the retinal pigment epithelium. It is a progressive disease. Symptoms usually begin with night blindness, progressing to constriction of the peripheral visual field with eventual loss of central vision. The age of onset varies from childhood to middle age (Gu et al. J Med Genet 36:705-707, 1999). The clinical hallmarks are an abnormal fundus with bone-spicule deposits and attenuated retinal vessels, abnormal electroretinographic findings, and reduced visual fields (Daiger et al. Arch Ophthalmol 125:151-158, 2007). RP affects 1 in 3,000 people worldwide (Farrar et al. EMBO J 21:857-864, 2002). Genetic abnormalities are the primary cause of RP.

Genetics

Retinitis pigmentosa (RP) is genetically and clinically heterogeneous. At least four distinct subgroups are recognized on the basis of the mode of inheritance and age of onset. These include autosomal dominant (AD-RP), autosomal recessive (AR-RP), X-linked, and digenic (Kajiwara et al. Science 264:1604-1608, 1994). In addition, RP can be inherited as a mitochondrial trait (Mansergh et al. Am J Hum Genet 64:971-985, 1999). Genetic heterogeneity is documented within each subgroup. About 50 % of patients with RP are isolated cases with no known affected relatives. It is unclear how many of these are real isolated cases caused by de novo variants or inherited with low penetrance. RP affects all ethnic groups, although variants in particular genes have been identified in specific populations. Currently, variants in 18 and 23 genes are known to cause AD-RP and AR-RP, respectively. These include the NR2E3 gene, which is also involved in enhanced S cone dystrophy (ESCS, Haider et al. Nat Genet 24:127-131, 2000). Recently, two novel NR2E3 variants have been implicated in RP. The first (p.Gly56Arg) was reported in two Belgian families and one French family with AD-RP (Coppieters et al. Am J Hum Genet 81:147-157, 2007). All affected individuals shared a common disease haplotype. In addition, they shared a similar phenotype, which corresponds to the classic RP phenotype accompanied by specific characteristics of ESCS. Briefly, this phenotype is characterized by a decline of rod function followed by that of cone function, as is usually the case in AD-RP, and by three concentric rings of hyperautofluorescence: around the fovea, along the vascular arcades and in the far periphery, with the two more central rings located in the same area as those affected in ESCS (Marmor et al. Am J Ophthalmol 110:124-134, 1990). The second variant (c.1038del) was reported in three siblings with AR-RP (Bernel et al. Clin Genet 73:360-366, 2008).

The NR2E3 gene is expressed specifically in the outer layer of the human retina and encodes a retinal nuclear receptor.

Clinical Sensitivity - Sequencing with CNV PG-Select

The p.Gly56Arg variant alone accounts for ~ 1-2% of AD-RP (AI Gire et al. Mol Vis 13:1970-1975, 2007). However, comprehensive information on sensitivity is not available yet.

Testing Strategy

This test provides full coverage of all coding exons of the NR2E3 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Patients with AD-RP and clinical features described above, patients with AD-RP or AR-RP and no variants detected in other genes known to cause these diseases. The NR2E3 gene is also a candidate for patients with ESCD. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in NR2E3.

Gene

Official Gene Symbol OMIM ID
NR2E3 604485
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Enhanced S-Cone Syndrome AR 268100
Retinitis Pigmentosa 37 AR, AD 611131

Related Test

Name
Retinitis Pigmentosa Panel

Citations

  • AI Gire et al. (2007). "The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa." Mol Vis 13:1970-75. PubMed ID: 17982421
  • Bernal, S., et.al. (2008). "Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies." Clin Genet 73(4): 360-6. PubMed ID: 18294254
  • Coppieters, F., et.al. (2007). "Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa." Am J Hum Genet 81(1): 147-57. PubMed ID: 17564971
  • Daiger et al. 2007. PubMed ID: 17296890
  • Farrar, G. J., et.al. (2002). "On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention." Embo J 21(5): 857-64. PubMed ID: 11867514
  • Gu S. et al. 1999. Journal of Medical Genetics. 36: 705-7. PubMed ID: 10507729
  • Haider, N. B., et.al. (2000). "Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate." Nat Genet 24(2): 127-31. PubMed ID: 10655056
  • Kajiwara, K. et.al. (1994). "Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci." Science 264(5165): 1604-1608. PubMed ID: 8202715
  • Mansergh, F. C., et.al. (1999). "Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene." Am J Hum Genet 64(4): 971-85. PubMed ID: 10090882
  • Marmor, M. F., et.al. (1990). "Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity." Am J Ophthalmol 110(2): 124-34. PubMed ID: 2378376

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

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ORDER OPTIONS

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

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