AMP Annual Meeting Highlights 2016 - Design, Validation, and Implementation of Effective Quality Control Materials for NGS/NIPS in a Clinical Laboratory

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Please note that this was recorded in 2016. All AMPEDTM content is reviewed and approved annually by the Training & Education Committee as relevant and accurate, but new data may now be available and new studies may have since been published.

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This collection will give you access to the recordings of the presentations (listed below) only. CME/CMLE or SAM is not available for this collection.


This is a recording from a session that was presented during the AMP 2016 Annual Meeting in Charlotte, NC.

Design, Validation, and Implementation of Effective Quality Control Materials for NGS/NIPS in a Clinical Laboratory

As tests for large numbers of rare genetic conditions come on-line in clinical laboratories, it is becoming increasing difficult to obtain high-quality, well-characterized human samples to use for the purposes of test development, validation, and ongoing proficiency testing. The first presentation will review how the CDC GeT-RM program is helping laboratories access samples for these purposes. Non-invasive prenatal screening (NIPS) for the common triploidies, Down (T21), Edward (T18) and Patau (T13) syndromes, as well as numerical abnormalities of the sex chromosomes, is now firmly established as an extremely valuable screening tool. However, there is currently no universally accepted or adopted proficiency test (PT) for NIPS. The second presentation will review the substantial challenges in developing PT for NIPS, and review progress in its development.

Learning Objective:

  • Identify the sample resources available to laboratories through the Get-RM program.
  • Explain the challenges and current progress toward developing PT samples for NIPS testing.

Development of Reference Materials for Proficiency Testing and Quality Assurance
Lisa V. Kalman, PhD, Centers for Disease Control and Prevention, Atlanta, GA, USA

External Proficiency Assessment of Prenatal Cell Free (cf) DNA Testing for Aneuploidy
Glenn E. Palomaki, PhD, Women & Infants Hospital, Providence, RI, USA

Duration1.5 hr

Recording Date: November 10, 2016


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