Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone


NEMETH S., RIEDL S., Kriegshaeuser G., Baumgartner-Parzer S., CONCOLINO P., NEOCLEOUS V., ...Daha Fazla

CLINICA CHIMICA ACTA, cilt.414, ss.211-214, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 414
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1016/j.cca.2012.09.013
  • Dergi Adı: CLINICA CHIMICA ACTA
  • Sayfa Sayıları: ss.211-214

Özet

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder most commonly caused by defects in the CYP21A2 gene. Neonatal CAH-screening based on 17-hydroxyprogesterone (17-OHP) measurements prevents life-threatening salt wasting conditions in newborns, but results in a considerable false-positive rate. Therefore, efficient second tier tests are required.