Science
In newborn screening tests, after a first-tier abnormal screening result, single gene or multi-gene testing panels are often utilized as second- or third-tier tests. However, the technologies typically employed today do not scale well and this is a real problem for the high-volume rapid throughput nature of newborn screening labs. On this month’s GenePod, Drs. Nicole Ruiz-Shultz and Andreas Rohrwasser of the Utah Public Health Laboratory discuss how they tested targeted exome sequencing, which focuses analysis on the most relevant subset of genes. See acast.com/privacy for privacy and opt-out information.