Cell free DNA diagnostic testing standards

摘要

Embodiments of the invention include methods and compositions for producing proficiency testing standards for noninvasive prenatal genetic diagnostics and for the detection and monitoring of cancer. The compositions can include a plurality of different nucleosomal DNA fragments derived from either primary cells or cell lines. The amount of the different nucleosomal DNA fragments can be varied so as to simulate naturally occurring cell free DNA samples obtained from the blood of the pregnant woman or naturally occurring cell free DNA samples obtained from the blood of cancer patients.

主权项

1. A cell-free nucleic acid diagnostic proficiency testing standard composition for analyzing non-invasive prenatal genetic tests, comprising
a set of at least two nucleosomal nucleic acid preparations, wherein the nucleosomal nucleic acid preparations in the set have a quantity of a first nucleosomal nucleic acid preparation from a first cell line derived from a first individual and a quantity of a second nucleosomal nucleic acid preparation from a second cell line derived from a second individual, wherein the first individual is a mother or father of the second individual and the first and second individuals have different copy numbers of at least one chromosome, and wherein the quantity of the second nucleosomal nucleic acid preparation as a percentage of the quantity of the first nucleosomal nucleic acid preparation plus the quantity of the second nucleosomal nucleic acid preparation is different for each of the nucleosomal nucleic acid preparations in the set.