Diagnosis; Drug Response; Monitoring; Mutation Confirmation; Pre-symptomatic; Predictive; Prognostic; Recurrence; Risk Assessment; Screening; Therapeutic management

Patients with inherited eye disease or a family history of inherited eye disease

Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed both in-house and at an outside lab

Test performance comments
Mutation confirmation done using Sanger sequencing at an outside lab.

Our MVL Vision Panel (v1) consists of 537 genes covering 2.48 million base pairs with an average coverage of 772 reads and at least 20X coverage in 95.6% of the panel. Targeted regions cover all exons, exon-intron boundaries, and relevant, deep-intronic regions. Identified mutations and novel variations are confirmed by … Our MVL Vision Panel (v1) consists of 537 genes covering 2.48 million base pairs with an average coverage of 772 reads and at least 20X coverage in 95.6% of the panel. Targeted regions cover all exons, exon-intron boundaries, and relevant, deep-intronic regions. Identified mutations and novel variations are confirmed by Sanger sequencing. The sensitivity of DNA sequencing is 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed. Multiple exon deletions, multiple exon insertions, and complete deletion of one allele may not be identified using these methods. View more

Is proficiency testing performed for this test? Help
No