Retina/Photoreceptor Dystrophy: Deletion/Duplication Panel

Condition Description

The Retina/Photoreceptor Dystrophy Panel is an analysis of almost all clinically relevant genes identified as causing non-syndromic disorders affecting the retina. Disorders in this category include, but are not limited to, isolated/inherited retinitis pigmentosa, Leber congenital amaurosis, achromatopsia, congenital stationary night blindness, vitreoretinopathy, optic atrophy, and the various photoreceptor/macular dystrophies. Additionally, a select group of syndromic genes that have also been identified in causing isolated retinal disease are included in this analysis (such as PAX6, CLN3, and USH2A). Please note, this analysis does not include mitochondrial sequencing; therefore, if Leber hereditary optic neuropathy (LHON) is suspected, targeted analysis for the common pathogenic variants is recommended (see test code: QC).

Genes (121)

Your search may have returned a result for a gene alias. Click here for a full list of genes and their aliases.


This test is indicated for:
  • Confirmation of a clinical diagnosis of retina/photoreceptor dystrophy.


Deletion/Duplication Analysis: DNA isolated from peripheral blood is hybridized to a gene-targeted CGH array to detect deletions and duplications. The targeted CGH array has overlapping probes that cover the entire genomic region.


Deletion/Duplication: Detection is limited to duplications and deletions. The CGH array will not detect point or intronic pathogenic variants. Results of molecular analysis must be interpreted in the context of the patient\'s clinical and/or biochemical phenotype.

Specimen Requirements

Listed below are EGL's preferred sample criteria. For any questions, please call 470.378.2200 and ask to speak with a laboratory genetic counselor (
Submit only 1 of the following specimen types
Whole Blood (EDTA)

EDTA (Purple Top)
Infants and Young Children (<2 years of age): 2-3 ml
Children > 2 years of age to 10 years old: 3-5 ml
Older Children & Adults: 5-10 ml
Autopsy: 2-3 ml unclotted cord or cardiac blood
Collection and Shipping
Ship sample at room temperature for receipt at EGL within 72 hours of collection. Do not freeze.
DNA, Isolated

Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
Collection and Shipping
Refrigerate until time of shipment in 100 ng/µL in TE buffer. Ship sample at room temperature with overnight delivery.

Special Instructions

Please include fundus photographs, electroretinogram (ERG) findings, visual field findings, and visual acuity, if available, for expert review and clinical correlation with test results.
  • Eye Disorders: Comprehensive Sequencing and Deletion/Duplication Panels.
  • Retina/Photoreceptor Dystrophy: Sequencing Panel.

How to Order