The most severe forms of spinal muscular atrophy (SMA) are considered to be a leading genetic cause of infant mortality. As a result, SMA is a very important disorder for carrier screening research studies.
SMN1 and SMN2 are very similar in sequence: the functional difference between the two is a single nucleotide change—from a cytosine to a thymine in exon 7. This homology presents special challenges for NGS technologies commonly used in expanded carrier screening research.
In this eCase study, Dr. Harris presents case examples to illustrate how the Ion Torrent™ CarrierSeq™ ECS Kits and algorithm advancements work in combination to detect SNVs and CNVs in these challenging genes.
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