Development of a Supplemental Newborn Screening Approach that Complements State Public Health Programs for Treatable Conditions

This poster was presented at the American College of Medical Genetics Meeting 2019.

Authors: V. Amin, R. Kitchener, S. Estes, M.B. Rossi, T. Sokolsky, A. Bhattacharjee, Laboratory Services Division, Baebies, Inc., Durham, NC; M. Wood, E. Veener, M. Bainbridge, Codified Genomics, Inc., Houston, TX; and V. Mistry, Fabric Genomics, Inc., Oakland, CA.

The poster describes a targeted next generation sequencing (tNGS) development of a comprehensive, high-throughput, Supplemental Newborn Screening approach that complements State Public Health programs for treatable conditions. The test is part of the Eli Screening Panel and 2nd Tier confirmatory test from a positive biochemical screen.