The Cone-Rod Dystrophy Panel is a comprehensive next-generation sequencing (NGS) panel that can be used to confirm a clinical diagnosis of cone-rody dystrophy or identify at-risk individuals.
Cone-rod is a group of related disorders that are characterized by progressive vision loss caused by degeneration of the light-sensing cells of the retina. Individuals with cone-rod dystrophy typically experience increased sensitivity to light and decreased visual acuity, which progresses to loss of color and peripheral vision, blind spots, and night blindness. The condition is progressive, and most individuals are legally blind by mid-adulthood.
This panel includes genes associated with:
- Cone-rod dystrophy
- Leber congenital amaurosis
- Retinitis pigmentosa
- Stargardt disease
- Vitelliform macular dystrophy
- Bardet-Biedl syndrome
- Juvenile macular degeneration
- Retinitis punctata albescens
The prevalence of cone-rod dystrophy is 1 in 40,000 individuals (Hamel, 2007), and may be higher in certain populations.
Inheritance and Penetrance
Cone-rod dystrophy is typically inherited an autosomal recessive manner, although it may also be inherited in autosomal recessive or X-linked fashions.
Disease causing variants can be identified in approximately ~50% of cone-rod dystrophy cases (Hamel, 2007). The Cone-Rod Panel includes all of the common genetic causes related to this disease.
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 Cone-rod dystrophy
Included genes (26)
Additions to the Cone-Rod Dystrophy Panel
Emerging evidence genes can also be added to the Cone-Rod Dystrophy Panel. These genes do not have a clear association with cone-rod dystrophy, but emerging evidence suggests that they may play a role in disease pathogenesis.
Emerging Evidence Genes (4)
- Hamel CP. Cone rod dystrophies. Orphanet J Rare Dis. 2007;2:7.