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How Biochemical Genetics Laboratory Confirmation Testing Interfaces with Positive Newborn Screening Tests: Case Focus on Homocystinuria and Duchenne Muscular Dystrophy
Description

ACMG Education Webinar Series: Translating Genes into Health®

 

Title: How Biochemical Genetics Laboratory Confirmation Testing Interfaces with Positive Newborn Screening Tests: Case Focus on Homocystinuria and Duchenne Muscular Dystrophy

 

Tuesday, July 15 | 2:00pm-3:00pm ET

1.0 AMA PRA Category 1 Credits™, P.A.C.E.® - Claim by August 15.

 

Description:

A case-based webinar to highlight the importance of biochemical genetics laboratory testing in the diagnosis of pediatric patients who are positive by a state newborn screening assay. This webinar will focus on the often diagnostic odyssey associated with a newborn diagnosis Homocystinuria and Duchenne Muscular Dystrophy and how to parse out the false positives from the true positives. Each speaker will provide case examples of diagnostic odyssey in each disease state where the newborn screen results or confirmatory results were unclear and additional confirmation testing was required (i.e. additional biochemical genetics testing following an algorithm or molecular testing).

 

Target Audience: Medical and clinical geneticists; maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.

 

Learning Objectives

 

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

  1. Describe challenges faced when novel newborn screening programs are put into place
  2. Discuss results from biochemical genetics assays for Homocystinuria and Duchenne Muscular Dystrophy
  3. Describe additional data required to continue to improve newborn screening programs (i.e. premie reference ranges)

 

Meet the Faculty

Meet the Faculty

 

Planners

Henry J. Mroczkowski, MD, PhD, FACMG (Chair)

University of TN Health Science Ctr

 

Jane Radford, MHA, CHCP

Director of Education - ACMG

 

Moderator

 

Sydney Strickland, PhD

Labcorp

 

Presenters

 

Nancy Leslie, MD

Cincinnati Children’s Hospital

 

Anna Scott, PhD, FACMG

Seattle Children’s Hospital

 

Accreditation Continuing Education Information

CME AMA PRA Category 1TM, & CME Other)

Accreditation

The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Credit Designation
The American College of Medical Genetics and Genomics designates this live activity for a maximum of 1.0 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

ASCLS P.A.C.E.® CEU's 

ACMG is approved as a provider of continuing education programs in the clinical laboratory sciences by the American Society for Clinical Laboratory Science (ASCLS) Professional Acknowledgment for Continuing Education (P.A.C.E.®) Program.

ACMG is approved by the Florida Board of Clinical Laboratory Personnel as CE Provider (50-11878). This course is registered with CEBroker #20-1289337. ACMG is approved by the California Department of Health Services through the ASCLS P.A.C.E.® (275-300-25). This activity has been approved for 1.0 P.A.C.E.® CEU's.

Claiming your Educational Credits

Complete the activity and carefully complete the evaluation form. The deadline to claim educational credits is within 30 days from the date of the activity. Educational credit requests after this date will not be accepted.

 

Learner Data Consent

ACMG Education reports learner data to respective agency boards and you will be asked for consent during the evaluation process. Your compliance with deadlines and completing evaluations are part of the process in meeting learner needs and ACMG’s education mission.

 

Technical Support:
You can reach us by email at education@acmg.net or call 301-718-9603.
Support Center Hours: Monday – Friday, 9:00 AM – 5:00 PM Eastern Time.

Summary
Availability:
Registration ends on July 15, 2025
Expires on Aug 15, 2025
Location:
Online Meeting
Date / Time:
Jul 15, 2025 2:00 PM - 3:00 PM ET
Cost:
FREE
Credit Offered:
1 CME (AMA) Credit
1 CME (Other) Credit
1 P.A.C.E. Credit

© 2025 American College of Medical Genetics and Genomics. All rights reserved.

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