Call for Cases is Open

Call for Diagnostic Cases is now OPEN. Submit early as slots fill up fast!

Diagnostic Dilemmas / Challenges are interactive sessions which will allow genetics professionals to present cases of rare knowns and unknowns, as well as share best practices. We have three exciting concurrent sessions:

  1. Laboratory Diagnostic Challenges (Constitutional and Neoplastic Cases in Molecular, Cytogenomic and Biochemical Genetics Specialties)
  2. Medical Diagnostic Challenges (Adult and Cancer)
  3. Challenge the Experts - Pediatric and Prenatal Diagnostic Dilemmas (Rare Knowns and Unknowns)

These concurrent sessions take place on Friday, March 13, 2026 from 5:30 pm – 7:00 pm. You may only submit one case proposal to one of the sessions.

Important Dates

Wednesday, October 1, 2025 Registration and Call for Abstracts open for the 2026 ACMG Annual Clinical Genetics Meeting; registered attendees may contact session chairs to apply to submit a case for one of the Diagnostic Dilemmas/Challenges sessions.
Friday, December 17, 2025 Diagnostic Cases Submission Deadline
Early Bird Registration Deadline
December 18 - January 5, 2026 Session Chairs Review Submissions
Thursday, January 15, 2026 Acceptance / Rejection Notices emailed
Friday January 1 - 9, 2026 Case Presenters complete Participation Forms in Presenter Portal
Friday, February 27, 2026 Final PowerPoint Presentations Uploaded
 
February 2 - March 6, 2026 Slide Review and Peer Review Process
March 10 - 14, 2026 ACMG Annual Clinical Genetics Meeting, Baltimore, Maryland

 

Case Submission Guidelines

You must be registered to attend the 2026 ACMG Annual Clinical Genetics Meeting in Baltimore, Maryland and able to present in person.

Read the Case Submission Guidelines before submitting your case.

Challenge the Experts - Pediatric and Prenatal Diagnostic Dilemmas (Rare Knowns and Unknowns)

Moderators: Keith Eddleman, MD, FACMG and Chad Haldeman-Englert, MD, FACMG

This is an exciting new format for this session!  The session provides attendees an opportunity to present cases to a panel of experts and an audience of geneticists for discussion of differential diagnosis, treatment, and counseling options.  Three prenatal and three pediatric cases will be selected (rare knowns and unknowns) for an interactive session with the audience and the expert.  The presenter will have the opportunity to "challenge the expert" with their case.  Prenatal cases include those that are rare knowns of prenatally diagnosed malformations, genetic syndromes, or potential genetic syndromes and include ultrasound findings, management, and, if available, postnatal findings.  Pediatric cases can be an unknown or a rare known that has not been presented previously as an unknown.

Each presentation will be limited to 10 min, with 5 min for audience and expert participation.  Please limit the text to the most important details that summarize pertinent positive and negative findings in addition to previous results. When preparing your slides for presentation, please do not disclose the final diagnosis (in the case of a rare known) or final results of testing (in the case of an unknown) until the last slide. For your title slide, use vague descriptors to challenge the imagination of the experts and the audience. For example: “A case of cranioraschisis and polydactyly first seen at 16 weeks gestation".

Learning Objectives:

  • Present and discuss clinical cases from chief complaint through diagnosis.
  • Develop and contribute to differential diagnoses, recognizing key features of both common and rare disorders.
  • Evaluate diagnostic workups in the context of expert recommendations.

         SUBMIT CASE

Laboratory Diagnostic Challenges

Constitutional and Neoplastic Cases in Molecular, Cytogenomic and Biochemical Genetics Specialties

Moderators: Devin Oglesbee, PhD, FACMG and Yassmine Akkari, PhD FACMG

This session provides attendees with the opportunity to bring cases with challenging diagnostic results or approaches to the attention of fellow clinical laboratorians to share knowledge and best practices. Cases from multiple clinical diagnostic specialties, including molecular, cytogenomic and biochemical genetics, are eligible in both the constitutional and somatic fields. Each presentation/discussion will be limited to 10 - 15 minutes and a total of 10 slides that include the important details of the phenotype test results in a story format that will allow pauses for the audience to engage in diagnostics and problem solving. 

Learning Objectives:

  • Apply structured approaches to interpret rare results across multiple clinical laboratory specialties
  • Analyze case presentations from phenotype to test result interpretation differential discussions.
  • Recognize and explain the clinical significance of testing results in rare case examples 

SUBMIT CASE

Medical Diagnostic Challenges (Adult and Cancer)

Moderators: Huma Rana, MD, FACMG and Jaime Vengoechea, MD

This session provides attendees with an opportunity to bring cases to the attention of a panel of experts and an audience of geneticists for discussion of differential diagnosis, treatment and counseling options in adult patients with genetic disorders. This session provides a lively discussion between the audience and the panel as each case is presented.

All types of cases are eligible: neurogenetic, metabolic, cancer, connective tissue, cardiac, ethical dilemmas, counseling, etc. The cases can be pure unknowns or patients with a clinically uncharacterized or incompletely characterized VUS. Each presentation will be limited to a total of 5 slides with 10 minutes for presentation and discussion with the audience and the panelists. You can present an unknown diagnosis or a rare known diagnosis or even an update on a previously presented unknown case.

Learning Objectives:

  • Present and analyze clinical cases from chief complaint to final diagnosis.
  • Develop and contribute to differential diagnoses while recognizing key clinical features, including those of rare cases.
  • Evaluate and review diagnostic workups in light of expert recommendations.

                                                          SUBMIT CASE