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Noa Shefer Averbuch on Muck Rack

Noa Shefer Averbuch

As seen in: Color Research & Application
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Articles

Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias

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By Orly Dgany, Tanya Krasnov, Noa Shefer Averbuch, Orna Steinberg‐Shemer
| Color Research & Application Verified
Most patients with anemia are diagnosed through clinical phenotype and basic laboratory testing. Nonetheless, in cases of rare congenital anemias, some patients remain undiagnosed despite undergoing an exhaustive workup. Genetic testing is complicated by the large number of genes involved in rare anemias and the similarities in the clinical presentation of the different syndromes. We aimed to enhance the diagnosis of patients with congenital anemias by using targeted next‐generation sequencing.
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