From Negative to Diagnosis: Real Patient Story
In 2020, six patients with late-onset distal muscle weakness received a negative genetic test report. At the time, CNV analysis was not performed — leaving their families without answers.
Through 3billion’s regular reanalysis, all six patients were later found to share the same deletion in the HNRNPA1 gene (exon 10). What was once a negative result became a clear diagnosis, giving their care teams a new path forward.
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