One of our main focuses in 2017 was VS-CNV which allows clinicians to directly call CNVs in target regions quicker, easier and more affordably than CMA or MLPA testing. Our clients at Robarts Research Institute shared their recent publication with me which confirms that our time and dedication to our CNV capabilities was well worth it. I am delighted to share their discoveries with our community.
Michael Iacocca and colleagues analyzed 388 samples of patients with familial hypercholesterolemia, a disease caused predominantly by autosomal codominant mutations in the LDL receptor gene (LDRL). The standard method is to use next-gen sequencing to detect SNVs followed by an MLPA test to identify CNVs. However, their study was interested in seeing if the MLPA portion of the test can be entirely replaced by our NGS-based CNV detection method. It turned out that thirty-eight (9.8%) of the 388 FH patients were positive for CNVs in LDRL according to Golden Helix CNV method. This was 100% in concordance with those detected by MLPA.
Read the full story on Our 2 SNPs… here.