Benign Flecked Retina Disorder via the PLA2G5 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
8839 PLA2G5 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8839PLA2G581479 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.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Flecked retinal disorder is characterized by a distinctive retinal appearance with yellow-white, irregular fleck-like lesions with great variability in size, extending to the far periphery of the retina, but sparing the foveal region without vascular or optic nerve abnormalities. This condition is seen in a large variety of diseases. Some are limited to the eyes such as fundus albipunctatus, fundus flavimaculatus, familial drusen and fleck retina of Kandori, retinitis punctata albescens or Bietti's crystalline dystrophy, and neuro-ophthalmologic syndromes such as Kjellin's syndrome. These disorders differ in severity (De Laey. 1993. PubMed ID: 7952338). It is important to distinguish these types of flecks from each other for accurate diagnosis. Sabel Aish and Dajani summarized the different types of flecked retinal disorders (Sabel Aish and Dajani. 1980. PubMed ID: 7426586).

PLA2G5-associated benign fleck retina is characterized as widespread discrete yellow-white fleck lesions on the fundus extending to the far periphery, but sparing the macular region with normal visual acuity and normal electroretinogram (Isaacs et al. 1996. PubMed ID: 8703867).

Genetics

Flecked retinal disorder (FRD) is heterogeneous as FRD is present in several retinal disorders with autosomal dominant, autosomal recessive, and x-linked inheritance. Pathogenic variants in ABCA4, CHM, EFEMP1, ELOVL4, LRAT, PLA2G5, PROM1, PRPH2, RDH5, RHO, RLBP1, RS1, and VPS13B have been shown to cause retinal flecks (Sergouniotis et al. 2011. PubMed ID: 22137173; Hayashi et al. 2006. PubMed ID: 16637847; Sparrow et al. 2015. PubMed ID: 26230768; Renner et al. 2009. PubMed ID: 19597113; Michaelides et al. 2003. PubMed ID: 12960208; Hipp et al. 2015. PubMed ID: 25429852; Littink et al. 2012. PubMed ID: 22559933; Souied et al. 1996. PubMed ID: 8554077; Yang et al. 2008. PubMed ID: 18654668; Taban et al. 2007. PubMed ID: 17383910).

Bi-allelic pathogenic variants in PLA2G5 cause benign fleck retina (Sergouniotis et al. 2011. PubMed ID: 22137173). PLA2G5 encodes group V phospholipase A2 (PLA2), which is highly expressed in the eye and heart (Sergouniotis et al. 2011. PubMed ID: 22137173). PLA2 is reported to be involved in phospholipid digestion and metabolism, host defense, and signal transduction (Dennis. 1994. PubMed ID: 8175726). To date, ~5 causative variants (missense, nonsense and a small frameshift deletion) have been documented causative (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the PLA2G5 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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Clinical Sensitivity - Sequencing with CNV PGxome

Due to genetic heterogeneity and phenotypic overlap, the clinical sensitivity is unclear. So far, large deletions/duplications have not been documented in this gene (Human Gene Mutation Database).

Indications for Test

All patients with symptoms suggestive of benign fleck retina are candidates. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in PLA2G5.

Gene

Official Gene Symbol OMIM ID
PLA2G5 601192
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Fleck Retina, Familial Benign AR 228980

Related Tests

Name
RHO-Related Disorders via the RHO Gene
RLBP1-Related Disorders via the RLBP1 Gene
Autosomal Dominant Stargardt disease (STGD3) via the ELOVL4 Gene
Cohen Syndrome via the VPS13B (COH1) Gene
Flecked Retina Disorder Panel
Fundus Albipunctatus With or Without Cone Dystrophy via the RDH5 Gene
Leber Congenital Amaurosis 14 (LCA14) or Early Onset Retinal Dystrophy (EORD) and Juvenile Retinitis Pigmentosa via the LRAT Gene
Leber Congenital Amaurosis Panel
Malattia Leventinese and Doyne Honeycomb Retinal Dystrophy via the EFEMP1 Gene
Retinitis Pigmentosa (includes RPGR ORF15) Panel
Retinitis Pigmentosa via the PRPH2 (RDS) Gene

Citations

  • De Laey. 1993. PubMed ID: 7952338
  • Dennis. 1994. PubMed ID: 8175726
  • Hayashi et al. 2006. PubMed ID: 16637847
  • Hipp et al. 2015. PubMed ID: 25429852
  • Human Gene Mutation Database (Bio-base).
  • Isaacs et al. 1996. PubMed ID: 8703867
  • Littink et al. 2012. PubMed ID: 22559933
  • Michaelides et al. 2003. PubMed ID: 12960208
  • Renner et al. 2009. PubMed ID: 19597113
  • Sabel Aish and Dajani. 1980. PubMed ID: 7426586
  • Sergouniotis et al. 2011. PubMed ID: 22137173
  • Souied et al. 1996. PubMed ID: 8554077
  • Sparrow et al. 2015. PubMed ID: 26230768
  • Taban et al. 2007. PubMed ID: 17383910
  • Yang et al. 2008. PubMed ID: 18654668

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.

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

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ORDER OPTIONS

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2) Select Additional Test Options

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

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