Category: Next Generation Sequencing
New CDC Partnerships to Advance the Development and Validation of Next Generation Sequencing Tests: A Publicly Available List of Expert Curated Variants
Over the last decade, genetic testing has evolved from examining a few well-defined variants in one or a few genes to the capability to examine much of the human genome using next generation sequencing (NGS). These analyses are particularly useful for disorders with locus and allelic heterogeneity, and are now the norm in several clinical Read More >
Posted on byNext Generation Sequencing to Diagnose Primary Immunodeficiency
Primary immunodeficiencies (PI) are a group of more than 400 genetic disorders that alter the ability of the immune system to fight off infection and affect 1 out of 1,2001 births in the United States. Patients with PI are at increased risk of recurrent infections, certain malignancies, and death. Initial identification of PI in a Read More >
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