Vitreoretinopathy, Neovascular Inflammatory via the CAPN5 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
11135 CAPN5 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11135CAPN581479 81479(x2) $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

Vitreoretinopathy, neovascular inflammatory disorder is clinically characterized by retinal and iris neovascularization, abnormal retinal pigmentation, anterior chamber and vitreous inflammation, cystoid macular edema, vitreous hemorrhage, traction retinal detachment, and neovascular glaucoma which can cause profound visual loss (Bennett et al., 1990. PubMed ID: 2234842; Cham et al., 2016. PubMed ID: 27390515). The disease onset varies between 10 and 30 years of age.

Genetics

Pathogenic variants in CAPN5 have been linked to autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV). ADNIV is an autoimmune condition of the eye that sequentially mimics uveitis, retinitis pigmentosa, and proliferative diabetic retinopathy as it progresses to complete blindness. CAPN5-encoded calpain-5 protein is a calcium-activated cysteine protease, which is expressed in photoreceptor cells (Mahajan et al., 2012. PubMed ID: 23055945). Mouse studies suggest that the pathogenic variants in CAPN5 increase calpain catalytic activity and trigger intraocular inflammation (Wert et al., 2015. PubMed ID: 25994508). So far, about five pathogenic variants (all missense) have been documented (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

Predicting clinical sensitivity is difficult due to the limited number of cases. However, all documented causative variants to date are single nucleotide substitutions which would be detected by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the CAPN5 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 autosomal dominant neovascular inflammatory vitreoretinopathy, and relatives of patients with known CAPN5 pathogenic variants.

Gene

Official Gene Symbol OMIM ID
CAPN5 602537
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Vitreoretinopathy, Neovascular Inflammatory AD 193235

Citations

  • Bennett et al., 1990. PubMed ID: 2234842
  • Cham et al., 2016. PubMed ID: 27390515
  • Human Gene Mutation Database (Bio-base).
  • Mahajan et al., 2012. PubMed ID: 23055945
  • Wert et al., 2015. PubMed ID: 25994508

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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