RT @JIMD_Editors: Our themed posts today begin with 'something old' Contribution of tandem mass spectrometry to the diagnosis of lysosomal…
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Our themed posts today begin with 'something old' Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders Monique Piraud, et al https://t.co/DuvVnZhfYw #lysosomalstoragedisorders https://t.co/VuLayax8rB
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WGS and WES are quicker and more available than ever before. However, genomic testing cannot occur in isolation and must be supported by robust biochemical confirmation to establish the pathogenicity of any changes seen.
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RT @JIMD_Editors: It’s important to recognise that genetic tests require biochemical confirmation, in 2018 Piraud et al looked at the: Cont…