American College of Medical Genetics Annual Clinical Genetics Meeting begins March 19

The American College of Medical Genetics (ACMG) Annual Clinical Genetics Meeting will be held March 19-23 in Phoenix, Ariz. Mayo Clinic will have four oral presentations and 20 poster presentations.

Visit Mayo Medical Laboratories representatives at booth 339 in the exhibit hall, which is open March 20-22, to learn more about:

  • Availability of our new copy number + SNP chromosomal microarray
  • Growing test menu for hereditary colon cancer syndromes
  • Novel approach to diagnose and monitor patients with Friedreich Ataxia
  • Addition of new molecular tests to confirm diagnosis of several inborn errors of metabolism
  • Other recent additions to Mayo Clinic’s genetic test menu including:
    • Angelman Syndrome
    • Beckwith-Wiedemann Syndrome
    • Familial Amyloidosis

Genetic counselors will also be available at the booth.


Below is a list of Mayo Clinic presentations (Mayo Clinic authors in italics).

Oral Presentations

Abstract Number Title Authors
7 Newborn screening (NBS) for Krabbe Disease - A comparative effectiveness study Dietrich Matern, Devin Oglesbee, John Hopwood, Grazia Isaya, Silvia Tortorelli, Kimiyo Raymond, Fred Lorey, Piero Rinaldo, Dimitar Garvrilov
19 The ICCG 180K Chromosomal Microarray Design: Results of an Evidence-Based Review Erik Thorland, Erin Riggs, Erica Andersen, Deanna Church, Vanessa Horner, Erin Kaminsky, Daniel Pineda-Alvarez, Karen Wain, Lindsey Waltman, Eli Williams, Swaroop Aradhya, Damien Bruno, Hutton Kearney, Dominica McMullan, Sarah South, Christa Martin
24 Targeted Next-Generation Sequencing Panels - Criteria for Establishing Clinical Utility Brittany Thomas, Matthew Ferber
43 Pregnancy Outcomes Following Prenatal Diagnosis of Congenital Anomalies Myra Wick, Lisa Gill, Christine Lohse, Tereza Pernicova


Poster Presentations

Abstract Number Title Authors
49 Clinical Utility of Post-Analytical Tools for the Diagnosis of Glutaric Acidemia Type II by Urine Acylglycine Analysis Linda Hasadsri, Dimitar Gavrilov, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Silvia Tortorelli, David McHugh, Gregg Marquardt, Piero Rinaldo
71 A Pilot Study to Identify Asymptomatic Newborns at Risk for Friedreich Ataxia through the Analysis of Frataxin Levels in Dried-Blood-Spots Devin Oglesbee, Karen Sanders, Charles Kroll, Ramanath Majumdar, Amber McDonald, Grazia Isaya, Dimitar Gavrilov, Kimiyo Raymond, Silvia Tortorelli, Piero Rinaldo, Fred Lorey, Dietrich Matern
72 Frataxin Blood Level Contributes to a Positive Diagnosis of Friedreich Ataxia, a Case Report Lindsay Zetzsche, Ralitza Gavrilova, Devin Oglesbee
111 CNKSR2 Mutations: A Novel Cause of X-linked Intellectual Disability and Seizures Umut Aypar, Nicole Hoppman, Lindsey Waltman
113 Common Inherited Ichthyoses: Overlapping Clinical and Histologic Features Valerie Martin, Jennifer Schoch, Dawn Davis, Jennifer Hand
124 Whole Exome Sequencing in the Clinic: Lessons from 6 Consecutive Cases Erin Conboy, Amber Volk, Beverly Wical, Marc Patterson, Salman Kirmani
159 Data Visualization in Reporting Next Generation Sequencing Results Kim Schahl, Colleen Bushell, Matthew Ferber
183 A Clinical Scoring System to Identify Sebaceous Neoplasm Patients at Risk for the for Muir-Torre Variant of Lynch Syndrome Maegan Roberts, Douglas Riegert-Johnson, Brittany Thomas, Colleen Thomas, Michael Heckman, Nancy Hanson, Cappel Mark
200 Effective and Safe Use of the Ketogenic Diet in Children with Intractable Epilepsy and Neurometabolic disorder Radhika Dhamija, Gloria Diaz-medina, Elaine Wirrell
249 Clinical overlap between Geleophysic Dysplasia and Weill-Marchesani syndrome Aaina Kochhar, Virginia Michels, Salman Kirmani, Frank Cetta, James Hyland
251 Aripiprazole and Trazodone Can Cause Elevations of 7-Dehydrocholesterol in the Absence of Smith-Lemli-Opitz Syndrome Patricia Hall, Virginia Michels, Dietrich Matern, Silvia Tortorelli
388 Hemoptysis as a single symptom of EDS vascular type, case presentation Pavel Pichurin
391 Translational Research in Newborn Screening: Development and Implementation of a Tool for the Clinical Validation of Severe Combined Immune Deficiency (SCID) Newborn Screening Fred Lorey, Roshini Abraham, Jennifer Puck, Michele Caggana, Piero Rinaldo, Amy Brower, Michael Watson
426 Utility of Follow-up Studies to Detect Complex Rearrangements after the Identification of Deletions by Chromosomal Microarray Charles Packard, Michael Davis, Anne Wiktor, Jennelle Hodge, Nicole Hoppman, Erik Thorland
430 Structural Variants of Monosomy X Likely Confer a Selective Advantage for Fetal Survival: Experience With 27,000 Products of Conception Specimens and Potential Significance for Prenatal Genetic Counseling Elyse Mitchell, Nicole Hoppman, Umut Aypar, Lynsie Sundin, Brandon Shearer, Rhett Ketterling
476 Laboratory Genetic Counselors Influencing Chromosomal Microarray Test Utilization and Ordering Practices Based on Clinical Guidelines Cassandra Runke, McKinsey Goodenberger, Lindsey Waltman, Elyse Mitchell, Karen Wain, Erik Thorland
491 Newborn Screening Quality Assurance at the Birthing Center – The Mayo Clinic Experience April Studinski, Roy House, Walter Cook, Piero Rinaldo, Dietrich Matern
501 Genome-Wide Epistasis Screening for Alzheimer‘s Disease Elena Gusareva, Kristel Sleegers, Denise Harold, Nilüfer Ertekin-Taner, Jean-Charles Lambert, Kristel Van Steen
537 Analysis of mtDNA multiple deletions in 65 muscle specimens using massively parallel sequencing (MPS) Fangyuan Li, Xia Tian, Margherita Milone, Hong Cui, Dimas Gonzalez, Hao Wang, Jing Wang, Megan Landsverk, Victor Zhang, Lee-Jun Wong
543 Impact of V122I mutations in transthyretin gene on age of onset and severity of disease Honey Reddi, Brittany Thomas, W Highsmith

Mayo Medical Laboratories

This post was authored by the Marketing Team at Mayo Medical Laboratories.