Syndromes Without a Name Bring Labs an Uphill Battle
In an era when genetic and genomic testing are theoretically affordable and accessible, why do so many patients remain undiagnosed?
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Which Test? Choosing the Best Approach to Diagnosing Rare Disease
Genomic sequencing is almost twice as likely to yield a diagnostic result, but lags behind panel testing in speed, cost, and concordance.
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Investigating the Cause of the 2022 Severe Acute Hepatitis Outbreak in Children
AAV2 virus detected with metagenomics, TE sequencing, and PCR in non-A–E hepatitis cases from two cohorts in Scotland/the UK and the US.
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New Guidelines Recommend Molecular Testing for Pediatric Brain Cancer Treatment
For labs, the big takeaway is how prominently molecular testing and profiling figures in so many aspects of the NCCN’s recommendations.
AHA Calls for Individualized Approach to Pediatric Cardiovascular Genetic Testing
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