The Retinitis Pigmentosa Panel is a comprehensive next-generation sequencing (NGS) panel that can be used to confirm a clinical diagnosis of retinitis pigmentosa or identify at-risk individuals.
Retinitis pigmentosa is a group of related disorders that result in progressive vision loss due to deterioration of the light sensing cells in the retina. Onset of vision loss typically begins in the childhood. The disease starts with loss of night vision, and progressively worsens including loss of peripheral to central vision. Affected individuals typically become legally blind by adulthood. Retinitis pigmentosa may occur in isolation, or be part of a syndrome, including Bardet-Biedl and Usher syndrome.
This panel includes genes associated with:
- Retinitis pigmentosa
- Leber congenital amaurosis
- Usher syndrome
- Cone-rod dystrophy
- Oguchi disease
- Newfoundland Rod-cone dystrophy
- Vitelliform macular dystrophy
The prevalence of retinitis pigmentosa is 1 in 3,500 to 1 in 4,000 individuals (Haim, 2002), although it may be higher in some populations.
Inheritance and Penetrance
Retinitis pigmentosa is inherited in autosomal dominant, autosomal recessive, and X-linked fashions.
Disease causing variants can be identified in approximately 70% of autosomal dominant, 30% of autosomal recessive, and 90% of X-linked retinitis pigmentosa cases (Daiger et al, 2013). The Retinitis Pigmentosa Panel includes all of the common genetic causes related to these diseases.
Methodology and Analytical Sensitivity
Next-generation sequencing technology is used to test clinically relevant portions of each gene, including coding exons, adjacent flanking bases, and selected introns/noncoding variants. Pathogenic and likely pathogenic variants are confirmed by orthogonal methods. Copy number variants, including intragenic deletions and duplications are detected to a resolution of a single exon. To request analysis of a specific single exon copy number variant, please contact our Client Services team prior to ordering. Analytical sensitivity and specificity of the assay is >99%.
Indications for Testing
- Confirmation of a clinical diagnosis
- Risk assessment for asymptomatic family members of proband with molecular diagnosis of retinitis pigmentosa
Included genes (72)
Additions to the Retinitis Pigmentosa Panel
Emerging evidence genes can also be added to the Retinitis Pigmentosa Panel. These genes do not have a clear association with retinitis pigmentosa, but emerging evidence suggests that they may play a role in disease pathogenesis.
Emerging Evidence Genes (11)