Corneal Dystrophies Panel
Use
Corneal dystrophies are rare inherited disorders characterized by progressive loss of corneal transparency due to accumulation of deposits in the cornea, leading to progressive decrease in visual acuity. These conditions typically manifest in the first or second decades of life, and are restricted to the cornea. Genes like TGFBI, CHST6, SLC4A11, and DCN are implicated, with varying inheritance patterns (dominant and recessive). The panel aims to identify causative variants as sequence and copy number variants, with an estimated diagnostic yield of 80% based on cohort studies.
Special Instructions
The panel is suitable for individuals with a clinical or suspected diagnosis of corneal dystrophy, or those with a family history of the condition. Results include both sequence and NGS-detected CNVs. Variants in the FOXE3 gene within c.181_195 are not reported due to technical difficulties.
Limitations
Analytical sensitivity of the exome platform is >99% for single nucleotide variants and CNVs ≥3 exons, but reduced in regions with repetitive elements or paralogy. The genome platform is validated at >99% for sequence and structural variants 1kb-10Mb in size. Variants not meeting quality thresholds are confirmed with orthogonal methods such as Sanger sequencing or array.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided