Cataract Panel
Use
Cataracts are opacities of the lens that block or scatter light and may occur due to protein accumulation or developmental defects. They present congenitally or later and can accompany other ocular abnormalities such as microphtalmia and glaucoma. Genetic testing helps identify causative variants, distinguishes isolated from syndromic forms, informs prognosis, guides surgical and genetic counseling decision-making, and enables carrier testing for family members.
Special Instructions
Using genomic DNA from submitted specimen, the assay enriches complete coding regions and splice junctions of panel genes using a proprietary targeted capture system. Sequencing performed by NGS with CNV calling. Regions with inadequate coverage may require alternate sequencing or CNV methods. Variants reported include pathogenic, likely pathogenic, and VUS; likely benign and benign variants are available upon request.
Limitations
Technical sensitivity is estimated >99% for single nucleotide variants. Not reliable for deletions >20 bp, insertions or rearrangements >10 bp, low-level mosaicism. CNV assessment cannot reliably detect variants <500 bp or mosaicism, and cannot identify balanced chromosomal aberrations. Exon-level CNV detection depends on sequence properties of targeted regions.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Extracted DNA
Volume
Not provided
Minimum Volume
Not provided