Noninvasive Prenatal Testing for Wilson Disease by Use of Circulating Single-Molecule Amplification and Resequencing Technology (cSMART)
Clinical Chemistry Podcast · Association for Diagnostics and Laboratory Medicine
February 3, 20158m 15s
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Show Notes
Prenatal testing using blood specimens rather than more invasive sampling has been successfully used for common chromosome disorders and for clinically significant copy number variations . H owever , detecting single gene disorders which are caused by mutations remains an analytical challenge.