American Association for Clinical Chemistry
Better health through laboratory medicine
April 2011 Clinical Laboratory News: New Paradigms in Carrier and Prenatal Screening


The Pathway to Carrier Screening

Researchers Callum Bell, Stephen Kingsmore, and their colleagues combined target enrichment, massively parallel sequencing, and powerful bioinformatics analysis to develop a test that screens for 448 autosomal recessive disorders. This flowchart provides an overview of the steps involved in performing the test.

Legend: Blue boxes–Quality assessment and control; Green boxes–Lab or bioinformatics process; Red box–Report production

Courtesy Darrell Dinwiddie, PhD, Children’s Mercy Hospital, Kansas City, Mo.