News

The American Journal of Managed Care3y
Study: NGS May Be a Superior Method of Detecting SMN1 Gene Copy Number
Compared with MLPA (6.69%) and quantitative polymerase chain reaction (qPCR) (5%)—another common method used for SMN1 gene copy number screening—NGS had the lowest retest rate at 2.74% ...
Nature18y
Population screening and cascade testing for carriers of SMA
We have developed a method to determine the SMN1 copy number using quantitative real time polymerase chain reaction (PCR) that defines specific, non-overlapping ranges for 1, 2 and 3 copy numbers ...
Labroots7y
Tough Targets, Simple Genotyping -Fast and Easy Protocols to Determine SMN1 and SMN2 Copy Number and APOE Allele Identification
Determining the copy number of SMN1 and SMN2 genes is notoriously difficult due to the high level of homology between the two genes. These genes, that are associated with spinal muscular atrophy (SMA) ...
Nature4y
Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification
In Group 1, 2:2 (survival motor neuron 1 ... underlying causes is needed to avert misclassification of the copy number of the SMN1 gene. Although DHPLC has been successfully used in SMA carrier ...
The American Journal of Managed Care2y
Researchers Highlight Utility of Long-Read Method for SMN1, SMN2 Profiling in SMA
The researchers used Paraphase on more than 400 samples of spinal muscular atrophy (SMA) comprising 5 ethnicities. The informatics method, called Paraphase, uses PacBio HiFi data to detect full ...