Diagnostic Precision

A SeraCare blog focused on precision medicine and advanced clinical diagnostics

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Ram Santhanam

Recent Posts

Video: See How an EQA Improves Clinical Genomics Testing with Affordable Custom Reference Standards

Category: NGS

Posted by Ram Santhanam on Mar 6, 2019 10:52:00 AM
Next-generation sequencing (NGS) has revolutionized how assay developers, laboratories, and clinicians are diagnosing, treating, and monitoring disease. As NGS panels grow to include an increasing number of important biomarkers, so too must the reference standards used for development, validation, and routine QC.
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As to Myeloid Diseases, Make a Habit of Three Things

Category: NGS, myeloid cancer reference materials

Posted by Ram Santhanam on Dec 13, 2017 2:15:00 PM
Previously, we wrote about the unique capabilities that next-generation sequencing (NGS) offers the oncology clinic. NGS could mark the beginning of a shift away from “single-site” technologies such as FISH and PCR-based testing, in favor of comprehensive screening across many different targets at once.
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The First Comprehensive Myeloid Cancer Reference Materials for NGS Assays

Category: NGS, myeloid cancer reference materials, reference materials

Posted by Ram Santhanam on Nov 8, 2017 4:30:00 PM
Myeloid cancers are “liquid” tumors that arise from the blood and bone marrow.  These diseases have undergone greater study and characterization than perhaps any other type of cancer, largely due to the ease of accessing these cancer cells via a blood draw rather than a tissue biopsy, as for solid tumors.  There are many different types and subtypes of these malignancies that are known to be caused by mutations in genes that encode proteins involved in cell signaling, transcription, epigenetic regulation, and splicing1.  Before next-generation sequencing became available in the hematology/oncology clinic, high-resolution genetic analysis of myeloid cancers relied primarily upon site-specific methods such as Fluorescence in Situ Hybridization (FISH) and PCR-based assays.  And, while other methods such as karyotyping and array comparative genomic hybridization are indeed able to survey large genomic rearrangements and copy number changes across the entire genome, these methods lack the resolution required for detection of many mutations that are important for myeloid cancers.
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