Overview
The MVL Vision Panel is a comprehensive test of vision-related, inherited conditions covering both non-syndromic and syndromic retinal dystrophies, peroxisome diseases, pigmentation diseases, mitochondria disease and developmental eye diseases. Our MVL Vision Panel (v21.2) consists of 1211 genes with an average coverage of ~500 reads and at least 30X coverage in >98% of the panel. Targeted regions cover all exons, exon-intron boundaries, and relevant, deep-intronic regions. The targeted approach provides higher coverage for the specific genes of interest, which results in more confident NGS CNV analysis results.
Even though our Vision Panel covers 1211 genes, we can always customize the data output and we can report any number and any combination of genes of our clients’ interest. Additionally, for clients with the capacity to perform data analysis, we can provide fastq only with reduced cost. For more information about our Vision Panel, please click here.
Taken together, we truly believe that our MVL Vision Panel is an exceptional product that is based on decades of our research and expertise.
Please note: for New York State samples, we will use VP v21.1 (which contains 1099 genes).
References:
Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes. Ophthalmic Genetics, 2018, Volume 39, Issue 1, p. 135-136. doi: 10.1080/13816810.2017.1318928
Development of High-Throughput Clinical Testing of RPGR ORF15 Using a Large Inherited Retinal Dystrophy Cohort. Investigative Ophthalmology and Visual Science, 2018, Volume 59, Issue 11, 4434-4440. doi: 10.1167/iovs.18-24555
| Panel Name | Price |
|
MVL Vision Panel: includes 1211 genes and mitochondria genome |
$650 |
|
MVL MitoSeq Panel (mitochondria genome sequencing only) |
$450 |
