Retinitis pigmentosa (RP) is a group of inherited disorders characterized by abnormalities of the photoreceptors on the retinal pigment epithelium. RP disorders lead to progressive visual loss. The first symptom is usually night blindness followed by visual field constriction which eventually leads to central vision loss. Isolated RP is most often inherited as an autosomal recessive disorder (50-60% of cases), but can be autosomal dominant (30-40%), or X-linked (5-15%) as well. More than 45 different genes accounting for approximately 60% of affected individuals have been implicated in RP.
Mutations in RP2 (Xp11.3) (OMIM #300757) account for 10-20% of X-linked RP cases (OMIM #312600). Carrier females may show mild retinal degeneration.
This testing is for the RP2 gene only.
This test is indicated for:
- Confirmation of a clinical diagnosis of X-Linked Retinitis Pigmentosa.
- Carrier testing in adults with a family history of X-Linked Retinitis Pigmentosa.
PCR amplification of 5 exons contained in the RP2 gene is performed on the patient\'s genomic DNA. Direct sequencing of amplification products is performed in both forward and reverse directions, using automated fluorescence dideoxy sequencing methods. The patient\'s gene sequences are then compared to a normal reference sequence. Sequence variations are classified as mutations, benign variants unrelated to disease, or variations of unknown clinical significance. Variants of unknown clinical significance may require further studies of the patient and/or family members. This assay does not interrogate the promoter region, deep intronic regions, or other regulatory elements, and does not detect large deletions.
Clinical Sensitivity: Unknown. Mutations in the promoter region, some mutations in the introns and other regulatory element mutations cannot be detected by this analysis. Large deletions will not be detected by this analysis. Results of molecular analysis should be interpreted in the context of the patient\'s clinical and/or biochemical phenotype.
Analytical Sensitivity: ~99%
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
Orangene™ Saliva Collection Kit used according to manufacturer instructions. Please contact EGL for a Saliva Collection Kit for patients that cannot provide a blood sample.
Isolation using the Perkin Elmer™Chemagen™ Chemagen™ Automated Extraction method or Qiagen™ Puregene kit for DNA extraction is recommended.
- Deletion/duplication analysis of the RP2 gene by CGH array is available for those individuals in whom sequence analysis is negative.
- Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by targeted mutation testing or sequencing analysis.
- Prenatal testing is available only for known familial mutations to individuals who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.
- Sequencing and deletion/duplication analysis are available for the RPGR gene.