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View Only-High Resolution Mass Spectrometry and Glycosylation Disorders
Hosted by EGL Genetics 
About this course
Genomic case conferences are on-demand webinars that focus on the adaptation of exome or genome sequencing technology in clinical care. During the ACMG Genomics Case Conferences, expert(s) from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics. Genomic Case Conferences are free for Members/Trainees (credits not included).

Session Description:
This presentation will identify the main testing methodologies for clinical screening and diagnosis for congenital disorders of glycosylation (CDG), as well as describe their shifting position in the diagnostic process. In the past, biochemical screening assays have been used to identify targeted genes for sequencing and diagnostic confirmation. This presentation will highlight cases that have followed this traditional path of CDG diagnosis, as well as those that have flipped it - and resulted in biochemical testing being pursued to follow-up on uncertain or equivocal results from whole exome or panel testing.
Course Description

Learning objectives

At the conclusion of the series, participants should be able to:

  1. Describe the clinical utility of whole exome/whole genome sequencing tests
  2. Identify clinical indications for whole exome/whole genome sequencing
  3. List determinants used to assess the probability of a variant’s pathogenicity
  4. Elaborate on the importance of pre-test counseling and consent

Session learning objectives

At the conclusion of this session, participants should be able to:

  1. Identify factors that can interfere with glycosylation disorder testing using carbohydrate deficient transferrin analysis.
  2. List relevant information that can assist a laboratory in thorough interpretation of glycosylation testing
  3. Describe the limitations of laboratory testing for rare glycosylation disorders


Planning Committee

Monica Giovanni, MS, CGC

ACMG Education Committee Chair and Liaison to the Program Committee

Nothing to disclose


Anne Slavotinek, MB.BS., PhD, FACMG

University of California, San Francisco (UCSF)

Disclosures: Grant/Research Support National Eye Institute and National Institutes of Health; Royalties: Oxford University Press, UptoDate


John Bernat, MD, PhD, FACMG

University of Iowa

Disclosures: Receives grant/research support from Sanofi Genzyme, Shire and Protalix


Staff - American College of Medical Genetics and Genomics

The following have nothing to disclose.

Jane Radford, MHA, CHCP

Claudia Barnett

Michael Watson, PhD, FACMG


Presenter Disclosures

Patricia Hall, PhD, FACMG

Operations and Scientific Director, Biochemical Genetics Laboratory

EGL Genetics

Nothing to disclose

Availability: On-Demand
Cost: ACMG Member: $0.00
Non-Member: $30.00
Postdoc/Trainee (M): $0.00
Postdoc/Trainee (NM): $30.00
Student (M): $0.00
Student (NM): $30.00
Credit Offered:
No Credit Offered

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