Shuji Ogino, Debra G.B. Leonard, Hanna Rennert, Robert B. Wilson

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Spinal Muscular Atrophy Genetic Testing Experience at an Academic Medical Center Shuji Ogino, Debra G.B. Leonard, Hanna Rennert, Robert B. Wilson The Journal of Molecular Diagnostics Volume 4, Issue 1, Pages 53-58 (February 2002) DOI: 10.1016/S1525-1578(10)60680-0 Copyright © 2002 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 An example of an ABI 373a electropherogram showing a one-base-larger SMN1 peak (actual size 188 bp, shown as 189 bp, arrow) in addition to the expected SMN1 peak (actual size 187 bp, shown as 188 bp,arrowhead), each corresponding to one SMN1 copy by gene dosage analysis. Each peak corresponds to PCR products of an SMN internal standard (SMNis), SMN2genomic sequence (SMN2),SMN1 genomic sequence (SMN1, with a doublet), a CFTR internal standard (CFTRis), and CFTRgenomic sequence (CFTR), from left to right, respectively. Numbers under each peak represent approximate product size in bp (top) and fluorescence intensity measured as an area under curve (bottom). The Journal of Molecular Diagnostics 2002 4, 53-58DOI: (10.1016/S1525-1578(10)60680-0) Copyright © 2002 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 A flow chart of the results of SMA diagnostic tests and SMN1 gene dosage analyses for symptomatic and prenatal cases. The Journal of Molecular Diagnostics 2002 4, 53-58DOI: (10.1016/S1525-1578(10)60680-0) Copyright © 2002 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions