Accurate diagnosis of spinal muscular atrophy and 22q11.2 deletion syndrome using limited deoxynucleotide triphosphates and high-resolution melting
Abstract Background Copy number variation (CNV) has been implicated in the genetics of multiple human diseases.Spinal muscular atrophy (SMA) and 22q11.2 deletion syndrome turbosound ts-18sw700/8a (22q11.2DS) are two of the most common diseases which are caused by DNA copy number variations.Genetic diagnostics for these conditions would be enhanced