Abstract: The present disclosure provides methods and compositions for preparing nucleic acid molecules using a novel, single-tube workflow that allows users to carry out the isolation of nucleic acids from a sample and perform a nucleic acid assay using the isolated nucleic acids in a single tube or vessel. As such, the methods disclosed herein can be used with low quality and/or small quantity of nucleic acid samples. Further, the disclosed methods offer similar or improved concordance rates in addition to improved signal to noise ratio when compared to the existing methods used for genetic analysis. Thus, making the methods disclosed herein suitable for clinical applications such as infectious disease diagnosis, pre-implantation genetic testing, prenatal or cancer diagnosis.

Abstract: Detecting different mutations in the same sample is essential, especially where the sample is limited in quantity and where high-throughput methods are desired for rapid detection of mutations. Methods routinely used in the art require separate assays for detecting different mutations or mutation types (e.g. single nucleotide polymorphisms (SNPs) or copy number variations (CNVs)) in a sample. The present disclosure provides methods for detecting different mutations, such as SNPs and CNVs in the same sample.