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

a person using scissors to cut DNA

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 by Lisa V. Kalman, Ira M. Lubin, Division of Laboratory Systems, Centers for Disease Control and PreventionTags

Next Generation Sequencing to Diagnose Primary Immunodeficiency

three children with sequencing in the background

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 >

Posted on by Aditi Kantipuly, Medical Student, McGill University and Ridgely Fisk Green, Office of Genomics and Precision Public Health, Centers for Disease Control and PreventionTags