Dr. Ludmila Francescatto Gives Talk about New Efficient Lab Testing Platform at ACMG Meeting

On March 20th, 2025, Assistant Professor Ludmila Francescatto, PhD, gave a talk titled “Using the Applied Biosystems™ CytoScan™ HD Accel - Duke’s Experience and Case Study Review” at the American College of Medical Genetics and Genomics (ACMG) meeting in Los Angeles, California. She introduced a new platform that allows for a faster test turn-around-time which can lead to cost savings for in-patient testing.

Francescatto discussed the Duke Cytogenetics Laboratory’s validation of a new microarray platform to detect copy number abnormalities as a laboratory-developed test (LDT) and illustrated the clinical utility of the testing by highlighting relevant constitutional and heme malignancy cases. For constitutional cases in particular, the accelerated workflow has allowed the lab to implement a new testing schedule with two Cytoscan Accel runs per week, providing results within 3-6 days.

This is of special significance for patients admitted to the hospital within the Duke Health System, leading to potential medical and economic benefits. For patients with acute leukemia, microarray analysis is often recommended and performed to fully characterize the abnormal clone, as some clones, such as masked hypodiploid clones, can only be confirmed by microarray analysis.  Detection of genomic abnormalities, such as masked hypodiploid, is crucial for the accurate management of B-cell acute lymphoblastic leukemia (B-ALL).

Fancescatto completed her Laboratory Genetics and Genomics fellowship with Duke Pathology in 2024. In 2023, she was one of the recipients of the Bionano Innovator Research Grant competition.

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