Close Menu
September 17, 2020
Sponsored by
Thermo Fisher Scientific

Clinical Diagnosis of Developmental Disorders with Chromosomal Microarrays


Senior Director, Cytogenetics Laboratory,
Greenwood Genetic Center

The prevalence of developmental disability among US children aged 3 to 17 years increased between 2009 and 2017, with as many as 1 in 6 children in the US reported to have a developmental disability diagnosis. Developmental delay/intellectual disability (DD/ID) is frequently accompanied with one or more congenital anomalies or dysmorphic features. 

Chromosomal microarrays (CMA) are an established technology that has demonstrated great sensitivity and specificity for detecting genome-wide copy number variants (CNVs) and now represents a robust technical platform for both medical genetics research and clinical services. The American Academy of Neurology, the American College of Medical Genetics, and the International Collaboration for Clinical Genomics recommend CMAs as the first-line test to aid in the diagnostic evaluation of intellectual disability.

CMA is replacing traditional karyotype and FISH as the first-line genetic test due to its greater sensitivity, higher resolution, genome-wide capability, and greater diagnostic yield. The CytoScan Dx Assay is the first FDA-cleared chromosomal microarray test to aid in the identification of the underlying genetic cause of developmental delay, intellectual disability, congenital anomalies, or dysmorphic features in children.

Join Barb Dupont from Greenwood Genetic Center to: 

  • Learn about the importance of CMA postnatal assessments for developmental delay, intellectual disability, congenital anomalies, or dysmorphic features
  • Discover the advantages of using a higher-resolution CMA solution when compared to conventional techniques such as karyotyping and FISH
  • Understand how CMA results from CytoScan Dx Assay can be used in conjunction with other clinical and diagnostic findings by healthcare professionals
Sponsored by

Novavax has begun a phase III trial of its SARS-CoV-2 vaccine, according to the New York Times.

The governor of New York says the state will conduct its own review of any SARS-CoV-2 vaccine, NPR reports.

Vox reports that the Trump Administration may limit student visas for individuals from some countries to two years.

This week in Science: Neanderthal Y chromosomes replaced by Homo sapiens Y chromosomes, and more.

Sponsored by
Adaptive Biotechnologies

T cells are the adaptive immune system’s first responders to any virus, circulating in the blood to detect and quickly multiply to attack the virus, and also support the development of antibodies by B cells. 

Sponsored by

This webinar will outline the use of targeted protein degradation (TPD) to understand transcriptional processes at a high kinetic resolution.

Sponsored by

Target enrichment has been a major driver behind the clinical adoption of next-generation sequencing (NGS) over the last decade because it simplifies analysis and provides a cost-effective method of massive parallel resequencing. It has not only replaced Sanger sequencing, but it is actively dispensing the need for parallel copy number variant (CNV) analysis using classic techniques.

Sponsored by

This webinar will provide an overview of novel proximal and distal sampling methods that have promise to improve patient outcomes from esophageal cancer.