Targeted next generation sequencing for newborn screening of Menkes disease.

ABSTRACT:

Purpose

Population-based newborn screening (NBS) allows early detection and treatment of inherited disorders. For certain medically-actionable conditions, however, NBS is limited by the absence of reliable biochemical signatures amenable to detection by current platforms. We sought to assess the analytic validity of an ATP7A targeted next generation DNA sequencing assay as a potential newborn screen for one such disorder, Menkes disease.

Methods

Dried blood spots from control or Menkes disease subjects (n = 22) were blindly analyzed for pathogenic variants in the copper transport gene, ATP7A. The analytical method was optimized to minimize cost and provide rapid turnaround time.

Results

The algorithm correctly identified pathogenic ATP7A

SUBMITTER: Parad RB 

PROVIDER: S-EPMC7378272 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature