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:
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.
- Brochure: Chromosomal Microarray
- Brochure: Biochemical Genetics
- Brochure: Molecular Genetics
- Brochure: Cytogenetics
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.
- Brochure: Lysosomal Storage Disorders
- Brochure: Newborn Lysosomal Storage & Peroxisomal Disorders
- NBS Follow-Up Algorithms
- IEM Test List
- Featured Biomarkers
- Test Sheet: Lysosomal Storage Disorders Screen, Urine
- Test Sheet: Oligosaccharide Screen, Urine
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.
- Brochure: Cardiovascualar Pharmacogenomics
- Cardiovascular NGS Venn Diagram
- Test Sheet: Lung Cancer Targeted Gene Panel with Rearrangement, Tumor
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
Panel Discussion: Recent Program Graduate, Testimony from “The Real World”
March 24: 11:30 a.m.–12 p.m.
“Unconventional” Genetic Counseling Models: the Future is Now!
- A Curious Case of Discordant Test Results for Gaucher Disease: Sequencing vs. Targeted Mutation Detection
- Complementary DNA, RNA, and Protein Analyses Identify a Paternal InDel and Maternal Chromosomal Inversion Diagnosing a Patient with Ataxia Telangiectasia
- Deviating from the Standard of Care: Elective Genetic Counseling for Genomic Sequencing
- De Novo Variant in DNM1L Leading to Status Epilepticus, Could Melatonin have Been the Trigger?
- Diagnosis of Lysosomal Acid Lipase Deficiency in Dried Blood Spots
- Evaluation of Single-tube Combined Amplicon-length and Repeat-primed Long-read PCR Assay for Clinical Detection and Characterization of C9orf72 Hexanucleotide Repeat Expansion
- Frataxin Analysis: A Cost-Effective and Rapid Method for Diagnosing Friedreich Ataxia
- Implementation of a Custom Quantitative Real Time PCR Assay as an Adjunct Methodology for the Evaluation of Copy Number Variation
- Managing the Unimaginable: Biobank Participant Preferences for Whole Genome Sequencing
- Mass Spectrometry Amyloid Typing in Combination with Sanger Sequencing Identifies a Diagnosis of Lysozyme Mediated Amyloidosis
- Mate Pair Sequencing Characterized Genomic Complexities More Accurately than Karyotyping, FISH, and Microarray in a Patient with Global Developmental Delays
- Newborn screening (NBS) for metachromatic leukodystrophy (MLD): Results from a study of 100,000 deidentified NBS samples.
- Psychosocial experiences of individuals and families with diagnoses of sex chromosome aneuploidy
- Solving Diagnostic Odysseys in the Individualized Medicine Clinic: It takes a village
- The Effects of Delivery Context on Women’s Experiences of Prenatal cfDNA Screening: A Tale of Two Studies
- Two cases of infantile Mitochondrial HMG-CoA synthase-2 deficiency: a rare and treatable condition
- Use of Genetic Testing after Abnormal Screening Ultrasound