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A Case of Mistaken Newborn Screening: Biochemical and Molecular Genetics Join Forces to Make the Right Diagnosis

From the 2020 Joint Annual Meeting (June 30, 2020)
Presented by Linda Hasadsri, MD, PhD
This case highlights two ongoing issues faced by both laboratory geneticists and clinicians involved in the diagnosis of inborn errors of metabolism. Namely, when is there sufficient evidence to classify a VUS as a mutation, and how many patients are potentially missed or misdiagnosed by current methods for newborn screening?

At the conclusion of this presentation, participants will be able to:

  1. Summarize the differences between derivatized vs. underivatized tandem mass spectrometry
  2. Identify biochemical laboratory findings in malonic aciduria
  3. Describe methods that can be used to prove the pathogenicity of a newly discovered genetic variant

This recorded presentation is P.A.C.E. ® accredited. The instruction level for this activity is Intermediate. One (1) P.A.C.E. ® contact hour and one (1) Florida credit hour in the area of Cytogenetics/Molecular Biology will be awarded to participants. ASCLS P.A.C.E.® is accepted by the ASCP/ASCLS/AGT Board of Certification and all states, including Florida and California, as an approved provider of continuing education for recertification and licensure. ASCLS is an approved provider with CE Broker for Florida licensees.

This intermediate-level program is appropriate for laboratory professionals working in clinical, public health and academic settings.