2014 ACMG Annual Clinical Genetics Meeting [Events]

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 Nashville, Tenn.

In addition to being represented by numerous presentations and abstracts, Mayo Medical Laboratories representatives will be available at booth #317 in the exhibit hall to discuss:


CHROMOSOMAL MICROARRAY

Mayo Clinic Cytogenetic Laboratory is pleased to announce the release of an Oligonucleotide + Single Nucleotide Polymorphism (SNP) chromosomal microarray for prenatal diagnosis. This assay will be performed on either chorionic villi or amniotic fluid specimens for the diagnosis of unbalanced chromosome rearrangements and aneuploidy.

Resources:


FRIEDREICH ATAXIA

Historically, Friedreich ataxia has been diagnosed by DNA-based testing. However, a molecular-based analysis does not effectively monitor treatment, is not amenable to multiplexing with other disease analytes, nor can it be efficiently utilized for population screening.

In contrast, a protein-based assay measuring concentration of frataxin is suitable for both diagnosis and treatment monitoring in individuals with Friedreich ataxia. This assay is also useful when the clinical suspicion of the disease is present and a clinician wants to include or exclude its possibility in a cost-effective manner.

Resources


OLIGOSACCHARIDOSES AND MUCOPOLYSACCHARIDES

New method for Mucopolysaccharides (MPS) Screen, Urine

  • MS/MS testing provides greater sensitivity and analytical precision compared to Thin Layer Chromatogoraphy
  • Requires smaller sample size (2cc) as opposed to 10 to 15 cc
  • Detects all glycosaminoglycans (dermatan sulfate, heparin sultate, chondroitin sulfate and keratin sulfate

Oligosaccharidoses Screen, Leukocytes | Fibroblasts

  • Improved tandem mass spectrometry method providing higher specificity
  • New method is an enzymatic activity based platform as oppose to the excretion of abnormal metabolites that often times are subjected to dietary and drug metabolites interferences
  • Measures actual enzyme activity for 6 different enzymes


LYSOSOMAL STORAGE DISORDERS

Mayo Medical Laboratories offers a wide variety of biochemical and molecular assays that aid in the screening, diagnosis and monitoring of lysosomal storage disorders.  Benefits of partnering with Mayo Clinic for this important testing include:

  • Access to experienced clinicians familiar with these disorders
  • Validation of molecular testing on blood spot eliminating the need for a second blood draw when confirmation is indicated
  • Availability of genetic counselor support to aid in testing options, result interpretation, and case review and coordination

Resources:


HEREDITARY COLON CANCER SYNDROMES

Our targeted test options and comprehensive next generation sequencing panel provide clinicians with a flexible and cost-effective approach to evaluating patients for hereditary colon cancer syndromes.

Resources


NEW GENETIC TESTS FROM MAYO MEDICAL LABORATORIES

CYTOGENETICS

BIOCHEMICAL GENETICS

MOLECULAR GENETICS

  • Hurler Syndrome, Full Gene Analysis
  • Hunter Syndrome, Full Gene Analysis
  • Acute Porphyria, Multi-Gene Panel
  • Mucopolysaccharidosis IIIA, Full Gene Analysis
  • Mucopolysaccharidosis IIIB, Full Gene Analysis
  • Mucopolysaccharidosis VI, Full Gene Analysis
  • X-Linked Adrenoleukodystrophy, Full Gene Analysis
  • Multiple Sulfatase Deficiency, Full Gene Analysis
  • GNPTAB Gene, Full Gene Analysis
  • FLG Gene, Mutation Analysis
  • HOXB13 Mutation Analysis (G84E)
  • C9orf72, Molecular Analysis
  • Brochure: Molecular Genetic Testing for Inherited Disorders


ORAL PLATFORM PRESENTATION SCHEDULE

The following representatives from Mayo Clinic and Mayo Medical Laboratories are scheduled to present oral platform presentations:

DATE PRESENTATION PRESENTER TIME LOCATION
3.27 Oral Platform Presentations: Counseling/Education/Public Health/Ethical Legal Social Issues: "Patients’ Views on Incidental Findings from Clinical Exome Sequencing"  Jen McCormick, Ph.D., Ashok Kumbamu, Ph.D., Rachek Topazian, Alexander Fiksdal, M.S.
9:45-10 a.m. Music City Center Room: Grand Ballroom A1
3.29 Closing Plenary Session Revisiting "Duty to Recontact" in the Genomics Era: Interdisciplinary Perspectives & Open Forum: "Revisiting the Ethical Foundation and Implications of "Duty to Recontact"
Richard Sharp, Ph.D. 10:30 a.m. - 12 p.m. Music City Center Room: Grand Ballroom BC

In addition to oral platform presentations, Mayo Clinic and Mayo Medical Laboratories is represented by approximately 24 abstracts.

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Kelley Schreiber

Kelley Schreiber is a Marketing Channel Manager at Mayo Medical Laboratories. She is the principle editor and writer of Insights and leads social media and direct marketing strategy. Kelley has worked at Mayo Clinic since 2013. Outside of work, you can find Kelley running, traveling, playing with her new kitten, and exploring new foods.