New more sensitive diagnostics protect transplanted kidney
With new more sensitive diagnostics, rejection of a transplanted kidney can be detected earlier,...
Thalassemias | October 7, 2022
Thalassemia is typically caused by sequence variants in the HBA1, HBA2 or HBB genes. The common sequence variants include a wide range of sequence variants, such as Single Nucleotide Variants (SNVs), smaller insertion and deletions (Indels) as well as large, exon spanning Copy Number Variations (CNVs). A range of different techniques such as GAP-PCR, Sanger sequencing, reverse hybridisation and MLPA is traditionally required to assess all variants.
Testing for both Alpha Thalassemia and Beta Thalassemia can be a complex process. Workflows are laboratory specific and often require the use of several different techniques to obtain a result. Relying on a patchwork of methods presents challenges such as:
With new more sensitive diagnostics, rejection of a transplanted kidney can be detected earlier,...
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