Abstract: Embodiments of the disclosure include methods of prenatal testing using non-invasive means that identify single gene disorders. In specific embodiments the methods are non-invasive and employ tagging circulating cell-free fetal DNA from the biological mother with particular adaptors that employ unique barcodes, followed by steps to enrich targets and steps for thorough sequencing.

Abstract: The disclosure concerns methods and compositions for obtaining reliable copy numbers of highly homologous gene(s) using next generation sequencing. The methods determine whether or not an individual is a carrier of an autosomal recessive gene mutation using a determination of copy number of two genes, in specific embodiments. In at least some cases, an individual is identified whether or not he or she is a carrier or affected for a genetic defect in SMN1, wherein the defect is associated with spinal muscular atrophy.