Flecked Retina Disorder Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
4321 ABCA4 81408,81479 Order Options and Pricing
CHM 81479,81479
EFEMP1 81479,81479
ELOVL4 81479,81479
LRAT 81479,81479
PLA2G5 81479,81479
PROM1 81479,81479
PRPH2 81404,81479
RDH5 81479,81479
RHO 81404,81479
RLBP1 81479,81479
RS1 81479,81479
VPS13B 81408,81407
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
4321Genes x (13)81479 81404, 81407, 81408, 81479 $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

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

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

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). 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).

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; Hayashi et al. 2006; Sparrow et al. 2015; Renner et al. 2009; Michaelides et al. 2003; Hipp et al. 2015; Littink et al. 2012; Souied et al. 1996; Yang et al. 2008; Taban et al. 2007). Missense, splicing, nonsense, small and gross deletions/duplications have been reported in these genes (Human Gene Mutation Database).

See individual gene test descriptions for more information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

Due to the genetic heterogeneity and phenotypic overlap, determining the clinical sensitivity is difficult. Shroyer et al. (2001) screened 22 families with both Stargardt disease (STGD) and Age-related Macular Degeneration and detected causative ABCA4 pathogenic variants in 37/46 (80%) (Shroyer et al. 2001).

So far, large deletions/duplications have been reported in ABCA4, CHM, PROM1, PRPH2, RHO, RLBP1, RS1, and VPS13B (Human Gene Mutation Database).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel provides 100% coverage of all coding exons of the genes 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).

Indications for Test

All patients with symptoms suggestive of Flecks in the retina are candidates.

Genes

Official Gene Symbol OMIM ID
ABCA4 601691
CHM 300390
EFEMP1 601548
ELOVL4 605512
LRAT 604863
PLA2G5 601192
PROM1 604365
PRPH2 179605
RDH5 601617
RHO 180380
RLBP1 180090
RS1 300839
VPS13B 607817
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • De Laey J.J. 1993. Bulletin De La Societe Belge D PubMed ID: 7952338
  • Hayashi T. et al. 2006. Acta Ophthalmologica Scandinavica. 84: 254-8. PubMed ID: 16637847
  • Hipp S. et al. 2015. Acta Ophthalmologica. 93: e281-6. PubMed ID: 25429852
  • Human Gene Mutation Database (Bio-base).
  • Littink K.W. et al. 2012. Ophthalmology. 119: 1899-906. PubMed ID: 22559933
  • Michaelides M. et al. 2003. Journal of Medical Genetics. 40: 641-50. PubMed ID: 12960208
  • Renner A.B. et al. 2009. Archives of Ophthalmology. 127: 907-12. PubMed ID: 19597113
  • Sabel Aish S.F., Dajani B. 1980. The British Journal of Ophthalmology. 64: 652-9. PubMed ID: 7426586
  • Sergouniotis P.I. et al. 2011. American Journal of Human Genetics. 89: 782-91. PubMed ID: 22137173
  • Shroyer N.F. et al. 2001. Human Molecular Genetics. 10: 2671-8. PubMed ID: 11726554
  • Souied E. et al. 1996. American Journal of Ophthalmology. 121: 19-25. PubMed ID: 8554077
  • Sparrow J.R. et al. 2015. Investigative Ophthalmology & Visual Science. 56: 5029-39. PubMed ID: 26230768
  • Taban M. et al. 2007. Journal of Aapos : the Official Publication of the American Association For Pediatric Ophthalmology and Strabismus / American Association For Pediatric Ophthalmology and Strabismus. 11: 431-7. PubMed ID: 17383910
  • Walia S. et al. 2009. Ophthalmic Genetics. 30: 69-75. PubMed ID: 19373677
  • Yang Z. et al. 2008. The Journal of Clinical Investigation. 118: 2908-16. 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

View Ordering Instructions

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.

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