Exome Use In Carrier Testing
In a review of our data, we found that over 40% of children born with catastrophic or severe disabilities that we diagnosed with rare autosomal recessive conditions carry pathogenic variants that would not have been detected using currently available targeted carrier tests. Join MNG Laboratories’ CMO, Dr. Peter L. Nagy, MD, PhD, as he discusses how the MNG Carrier Exome™ can detect rare potentially pathogenic variants that could possibly manifest in offspring which would otherwise not be detected by standard screening panels.