Physicians, scientists, genetic counselors, and allied health staff from Mayo Clinic and Mayo Medical Laboratories are currently attending the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Phoenix.

In addition to being represented by numerous presentations and abstracts, Mayo Medical Laboratories representatives will be available at booth #606 in the exhibit hall to discuss:

Genetic Testing

COMPREHENSIVE TESTING OPTIONS FOR INHERITED DISORDERS

The Division of Laboratory Genetics at Mayo Clinic actively contributes to the study of genetic disease and is a world-leader in the advancement of genetic testing and related technology, with a goal of enhancing clinical patient care. We offer hundreds of tests covering the spectrum of biochemical genetics, cytogenetics, and molecular genetics, including the latest test methods and technologies. Within each laboratory, board-certified directors and genetic counselors work closely with laboratory supervisors and technologists to ensure that accurate, reliable results are available in a timely manner.

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Lysosomal Storage Disorders

COMBINING ENZYME ACTIVITY, BIOMARKER TESTING, AND MOLECULAR ANALYSIS TO PROVIDE PHENOTYPIC AND DIAGNOSTIC INFORMATION

Lysosomal storage disorders (LSDs) are a diverse group of inherited diseases caused by accumulation of macromolecules in the lysosome due to defects in the macromolecules’ transport mechanisms or due to defective lysosomal enzyme function. These disorders have clinically diverse phenotypes and range in severity from death during infancy to milder, later-onset variants.

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Hereditary Peripheral Neuropathies

IMPROVING DIAGNOSTIC YIELD AND VALUE IN NEUROPATHY EVALUATION

Hereditary peripheral neuropathies are a relatively common diverse group of disorders with heterogeneous genetic causes. Due to the considerable overlap in the clinical phenotypes of various neuropathies, it is often difficult to distinguish these specific inherited disorders from sporadic, idiopathic, or acquired forms of neuropathy without genetic testing.

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Additional Resources


Mayo Clinic Presentations

SCIENTIFIC CONCURRENT SESSION

A Coffee Break: Café-au-Lait and Pigmentary Mosaicism In: Whorls and Swirls: The Skin as Nature’s Window to Mosaicism

Coffee with a Shot of PIK3CA In: Whorls and Swirls: The Skin as Nature’s Window to Mosaicism

Evolution of Cytogenetics into the Molecular Era In: Molecular Cytogenomics: The Next Generation in Balanced Rearrangement Detection

ORAL PLATFORM PRESENTATION

A Systematic Framework for the Clinical Interpretation of Chromosomal Copy Number Variants (ACMG-ClinGen guideline update)

Clinical Testing for Growth Differentiation Factor 15 (GDF15), a Potential Biomarker of Mitochondrial Disease

WORKSHOP

Panel Discussion: Recent Program Graduate, Testimony from “The Real World”

LEARNING LOUNGE

March 24: 11:30 a.m.–12 p.m.
“Unconventional” Genetic Counseling Models: the Future is Now!

POSTER PRESENTATIONS