The researchers are developing immuno-selected-reaction monitoring (SRM) mass spec to measure proteins linked to various immunodeficiency disorders.
The molecular test detects a form of herpes virus that can infect newborns and cause deafness.
The platform, which Waters introduced last month, uses flow-injection tandem mass spectrometry to enable high-throughput analysis of dried blood spots.
Regenerative therapeutics company StemCyte will offer Fulgent's Beacon Expanded Carrier Screening and Newborn Genetic Analysis testing services.
The startup's first test focuses on diagnosing 60 conditions for which treatment is available.
UK researchers found that just 22 percent of screening recommendations for rare newborn diseases were based on systematic reviews of available evidence.
At the ACMG meeting, Cynthia Morton said that several projects, including her team’s SEQaBOO study, are exploring the utility of genomic testing in newborn hearing screening.
The $649 NGS test screens for 193 disorders, can be ordered online, and is designed to supplement standard state newborn screening services.
The so-called ACT sheets are one pagers that guide doctors on what to do after receiving a genetic test results for a patient.
Last week, the company launched whole-genome sequencing of children for customers of its ViaCord cord blood and tissue banking business.