Purpose: To evaluate the feasibility of administering a newly established proficiency test offered through the College of American Pathologists and the American College of Medical Genetics for genomic ...

For more than three decades, the first-line test for spotting genetic disorders in young children has been a basic laboratory assay in which a technician analyzes a toddler's chromosomes under the ...

Tests for developmental diseases provide useful information for both clinicians and families. Detection and analysis of structural variability within chromosomes have become an integral part of ...