Overview
Whole exome sequencing (WES) is now available at Molecular Vision Laboratory for patients with vision and hearing loss. We utilize the capture-based, Agilent SureSelect Human All Exon V6 Kit, which was designed to boost coverage in relevant, disease-associated regions. The MVL WES Test has an average coverage of 100 reads and at least 30X coverage in 95% of targeted regions.
Genetic counselors, physicians, and researchers who order the MVL WES Test will be given access to the full list of variants identified through our Varsome Clinical portal. To accommodate the varying needs of our clients, we encourage the inclusion of information related to clinical phenotype and specification of the scope of desired results with your order so that the final report can be tailored to your specific request.
For variants of interest identified, we offer parental testing for segregation analysis at no additional charge.
Our WES bioinformatics workflow includes a filtration step that gives attention to case-specific relevant genes. This feature is useful in avoiding the identification of variants not relevant or related to a patient’s condition.
We use NCBI’s Medgen database to identify all genes that may have associations with a patient’s clinical presentation. For example, this list of associated genes may be associated with conditions that have Nystagmus as a clinical feature.
| Panel Name | Price |
| MVL Whole Exome Sequencing | $750 |
Updated:
Dec 2023
