Genomics|Update|Non Communicable Diseases ► Newborn Screening [6]

Genomics|Update|Non Communicable Diseases

Volume 33  Number 24  December 18-31, 2014

Newborn Screening

Newborn bloodspot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency
Taylor JL, et al. Clin Chem 2014 Dec

Newborn screening for congenital adrenal hyperplasia in New Zealand 1994-2013
Heather NL, et al. J Clin Endocrinol Metab 2014 Dec:jc20143168

Diagnostic guidelines for confirmation of screen-positive newborn screening results,  [PDF 991.66 KB] NYMAC, Sep 2014

FDA allows marketing of the first newborn screening test to help detect Severe Combined Immunodeficiency, FDA, Dec 15