Capillary Electrophoresis: Genetic Disease Testing for Challenging Targets in the Modern Clinical Lab

Rapid, Reliable Assay Results

While next-generation sequencing has revolutionized genetic and oncological testing in the modern clinical lab, some applications are inaccessible due to technological limitations. For characterizing repetitive DNA or copy number changes, capillary electrophoresis is an effective solution. It enables the diagnosis and screening of genetic disorders like Fragile X Syndrome and Spinal Muscular Atrophy that have severe or life-threatening phenotypes and a high carrier burden. With multiple classes of genetic therapies either recently approved or in development, accurate and robust molecular testing has become increasingly important.

In this P.A.C.E.-accredited Fisher Healthcare webinar, John N. Milligan, Ph.D., will discuss capillary electrophoresis and how it works. He will talk about its strengths and weaknesses and how it fits in with other technologies like long-read PCR to provide simple, rapid, and reliable assay results for today’s clinical lab.

Learning Objectives

This webinar will help you:

• Evaluate the strengths and weaknesses of capillary electrophoresis for nucleic acid diagnostics
• Describe the importance of genetic disease testing for carrier and newborn screening applications
• Discuss how the roles of capillary electrophoresis and genetic disease testing have changed over time — and how they might change in the future

Watch On Demand      Download Slides (PDF, 2MB)

This webinar is produced by Whitehat Communications, a provider of continuing education programs in clinical laboratory sciences that has been approved by the ASCLS P.A.C.E. Program. One P.A.C.E. credit hour will be provided for this complimentary, basic-level program.

John N. Milligan, Ph.D., is a senior scientist in product development at Asuragen in Austin, TX, where he develops and validates assays for the testing of hereditary and oncological genetic diseases. Milligan earned his doctorate in molecular biology at the University of Texas, where his work focused on point of care diagnostics and protein engineering, including engineering a novel polymerase for use with isothermal amplification and strand displacement applications. Milligan’s work at Asuragen has spanned multiple areas of diagnostic interest, including the validation of multiple QuantideX^™ quantitative PCR products for monitoring treatment progression of patients with chronic myeloid leukemia (CML).

Currently, his work focuses on the development of new assays for the screening and diagnosis of spinal muscular atrophy (SMA), which can now be effectively treated thanks to recent breakthroughs in modern medicine. Highlights include the launch of multiple AmplideX^™ PCR kits for the determination of SMN1 and SMN2 exon 7 copy numbers, which use unique chemistries to enable analysis of PCR products on capillary electrophoresis platforms without any post-PCR processing. Milligan is an author of eight peer-reviewed publications describing the directed evolution of DNA polymerases, optimization of DNA circuits and sensors, novel isothermal amplification schemes, and transcription factor regulation in parasites.