Early-Onset High Myopia Panel
Use
Early-onset high myopia is characterized by severe nearsightedness with a refractive error of at least -6.00 diopters that develops before age 10. This condition can present in isolation or as part of syndromes such as Stickler, Marfan, and SHORT syndrome. Non-syndromic myopia is influenced by genetic and environmental factors, with early-onset high myopia being more likely monogenic. The panel includes genes associated with non-syndromic myopia and primary ocular disorders. Inheritance patterns include X-linked, autosomal dominant, and recessive. The diagnostic yield varies with the clinical presentation and is expected to be about 20% based on a cohort study.
Special Instructions
Please refer to the Test Methods page for specific limitations relevant to the methodology used. PreventionGenetics provides STAT testing, which incurs a surcharge if delivered after 16 days from receipt of a blood sample. Exome-wide CNV analysis is available as an add-on option.
Limitations
All genetic tests have limitations. Sensitivity is reduced in regions with repetitive elements or paralogy. The analytical sensitivity for single nucleotide variants is >99% for the exome platform, with reduced sensitivity for indels and CNVs. Variants not meeting quality thresholds are confirmed with additional methods such as Sanger and array.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided