Congenital Stationary Night Blindness via the LRIT3 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
8467 LRIT3 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8467LRIT381479 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.

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

Congenital Stationary Night Blindness (CSNB) is a retinal condition with negative bright-flash dark-adapted electroretinogram response, and optic atrophy or dysplastic changes, or both, in the optic nerve head. Typical findings of CSNB include impaired night vision, no pigmentary retinopathy, full visual fields consistent with myopia and strabismus, which appear from early childhood and are nonprogressive (Heckenlively et al. 1983. PubMed ID: 6605090; Nakamura et al. 2001). Early stages of retinitis pigmentosa (RP) and CSNB are difficult to distinguish (Chen et al. 2010. IOVS meeting abstract).

Genetics

Congenital Stationary Night Blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder. Pathogenic variants in ~20 genes have been shown to be associated with CSNB (Zeitz et al. 2015. PubMed ID: 25307992; Bijveld et al. 2013. PubMed ID: 23714322). CSNB exhibits autosomal recessive (AR), dominant (AD) and X-linked inheritance (XL). Pathogenic variants in LRIT3 are associated with autosomal recessive complete CSNB (Zeitz et al. 2013. PubMed ID: 23246293). Mouse studies suggested that LRIT3 is localized at the dendritic tips of depolarizing bipolar cells in retina. Also, these studies demonstrated that LRIT3 is essential for TRPM1 localization and may play a role in cone synapse formation (Neuillé et al. 2015. PubMed ID: 25997951). To date, missense, nonsense, and small frameshift deletions in LRIT3 have been documented causative for CSNB (Human Gene Mutation Database).

Clinical Sensitivity - Sequencing with CNV PGxome

Due to the limited number of cases, predicting clinical sensitivity is difficult. All reported LRIT3 pathogenic variants are detectable by sequencing.

Testing Strategy

This test provides full coverage of all coding exons of the LRIT3 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 complete congenital stationary night blindness are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LRIT3.

Gene

Official Gene Symbol OMIM ID
LRIT3 615004
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Night Blindness, Congenital Stationary, Type 1F AR 615058

Related Tests

Name
RHO-Related Disorders via the RHO Gene
RLBP1-Related Disorders via the RLBP1 Gene
Cone-Rod Dystrophy via the CABP4 Gene
Flecked Retina Disorder Panel
Fundus Albipunctatus With or Without Cone Dystrophy via the RDH5 Gene
Leber Congenital Amaurosis Panel
Oguchi Disease and Retinitis Pigmentosa (RP47) via the SAG Gene
Retinitis Pigmentosa (includes RPGR ORF15) Panel
Retinitis Pigmentosa via the PRPH2 (RDS) Gene
X-Linked Complete Congenital Stationary Night Blindness (CSNB1) via the NYX Gene

Citations

  • Bijveld et al. 2013. PubMed ID: 23714322
  • Chen et al. 2010. IOVS meeting abstract (http://iovs.arvojournals.org/article.aspx?articleid=2371915)
  • Heckenlively et al. 1983. PubMed ID: 6605090
  • Human Gene Mutation Database (Bio-base).
  • Nakamura et al. 2001. PubMed ID: 11381068
  • Neuillé et al. 2015. PubMed ID: 25997951
  • Zeitz et al. 2013. PubMed ID: 23246293
  • Zeitz et al. 2015. PubMed ID: 25307992

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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