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. 2023 Jul 27;9(3):42. doi: 10.3390/ijns9030042

Figure 2.

Figure 2

Timeline–diagnosis algorithm established in Alberta Newborn Screening Program. All DBS samples collected from across the province and received at the newborn laboratory in Edmonton undergo screening for SMA at the Molecular Genetics Lab (MGL). All samples with zero-copy of the SMN1 gene are subjected to duplicate testing, and labeled as screen positive only if both tests yield positive results. This process typically requires 6–8 days. Upon obtaining a positive screening result, a genetic counselor immediately contacts the pediatric neurologist, who arranges a meeting with the proband’s family to collect new blood samples for confirmatory diagnostic testing. The diagnostic confirmation test is conducted on the new blood samples from the proband, using the MLPA kit at MGL. This test not only confirms the results of the screening test but also determines the copy number of the SMN2 gene. On average, this diagnostic testing process takes 6 to 10 business days. Treatment is selected based on the copy numbers of SMN2 and is initiated as soon as possible.