Retinitis Pigmentosa: Deletion/Duplication Panel

Condition Description

Retinitis pigmentosa (RP) is a heterogeneous group of inherited diseases that commonly results in a progressive retinal degeneration. Over 90 forms of RP have been identified. RP can be syndromic or nonsyndromic and can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. RP is characterized by progressive visual field loss, night blindness, and abnormal or nonrecordable electroretinogram (ERG). Fundus changes include pigment deposition in the retina along the blood vessels with optic nerve pallor and arteriolar narrowing in early stages advancing to characteristic “bone spicule” pigmentary pattern in later stages. Please note that RPGR orf15 analysis is not included in this test.

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  • Daiger  et al. (1998) Invest Ophthalmol Vis Sci  39:S295.
  • OMIM
  • GeneReviews

Genes (66)

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This test is indicated for:

  • Confirmation of a clinical diagnosis of retinitis pigmentosa.
  • Carrier testing in adults with a family history of retinitis pigmentosa.


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
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.
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.

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.
  • Retinitis Pigmentosa: Sequencing Panel.

How to Order