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Retinitis Pigmentosa via the PRPF31 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
8355 PRPF31 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8355PRPF3181479 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. If the Sanger option is selected, CNV detection may be ordered through Test #600.

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

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 and eventual to 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 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). 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. Currently, variants in 18 genes are known to cause AD-RP. These include the PRPF31 gene. At least 40 heterozygous variants in the PRPF31 gene have been identified in patients with RP (Rio Frio et al. J Clin Invest 118:1519-1531, 2008), including familial and sporadic cases (Vithana et al. Mol Cell 8:375-381, 2001; Martínez-Gimeno et al. Invest Ophthalmol Vis Sci 44:2171-2177, 2003; Wang et al. Am J Med Genet 121A:235-239, 2003). The PRPF31 variants, most of which are novel, are distributed throughout the gene and are of various types. These variants are associated with a wide clinical variability in terms of age of onset, disease severity, and progression. PRPF31 variants have been detected in patients of various ethnic groups; however, the c.1142delG variant has been found only in Japanese patients and accounts for the majority of Japanese RP (Taira et al. Jpn J Opthalmol 51:45-48, 2007).

PRPF31 encodes the pre-mRNA-processing factor 31 protein, which participates in the removal of introns from mRNA. Variants in such proteins are expected to affect the splicing process of photoreceptor-specific genes resulting in abnormal gene products and ultimately retinal degeneration.

Clinical Sensitivity - Sequencing with CNV PGxome

Variants in the PRPF31 gene account for ~ 8% of RP (Daiger et al. Adv Exp Med Bio 613:203-209, 2008). PreventionGenetics plans to offer tests for all genes known to cause RP and is committed to add new tests as the remaining RP genes are discovered.

Testing Strategy

This test provides full coverage of all coding exons of the PRPF31 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).

This test will also sequence the region encompassing the deep intronic variant c.1374+654C>G.

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

The PRPF31 gene is a candidate for RP patients with autosomal dominant or sporadic RP.

Gene

Official Gene Symbol OMIM ID
PRPF31 606419
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Retinitis Pigmentosa 11 AD 600138

Related Test

Name
Retinitis Pigmentosa (includes RPGR ORF15) Panel

Citations

  • Daiger et al. 2007. PubMed ID: 17296890
  • Daiger, S. P., et.al. (2008). "Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP)." Adv Exp Med Biol 613: 203-9. PubMed ID: 18188946
  • 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
  • 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
  • Martinez-Gimeno, M., et.al. (2003). "Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa." Invest Ophthalmol Vis Sci 44(5): 2171-7. PubMed ID: 12714658
  • Rio Frio, T., et.al. (2008). "Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay." J Clin Invest 118(4): 1519-31. PubMed ID: 18317597
  • Taira, K., et.al. (2007). "Mutation c. 1142 del G in the PRPF31 gene in a family with autosomal dominant retinitis pigmentosa (RP11) and its implications." Jpn J Ophthalmol 51(1): 45-8. PubMed ID: 17295140
  • Vithana, E. N., et.al. (2001). "A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)." Mol Cell 8(2): 375-81. PubMed ID: 11545739
  • Wang, L., et.al. (2003). "Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family." Am J Med Genet A 121A(3): 235-9. PubMed ID: 12923864

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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