American College of Medical Genetics (ACMG) Tradeshow

Mayo Medical Laboratories will be an exhibitor at the 2012 American College of Medical Genetics Annual meeting. The annual meeting and exhibition is being held March 27-31, 2012 in Charlotte, N.C. There will also be a number of Mayo Clinic physicians, scientists, and allied-health staff presenting presentations and posters throughout the week. For your reference, we have included the full list of Mayo Clinic presentations below.

While you are at ACMG, come to booth #212 to speak with a Mayo Clinic genetic counselor about:

  • New test developments in molecular and biochemical genetics
  • Menu of testing available using blood spots
  • Development in next generation sequencing
  • Educational Resources

Mayo Clinic consultants and medical students will take part in presentations throughout the conference. Presentation topics and times are as follows:

Speaker Presentation

Friday, March 30
1:15—3:15 p.m.

Presenter
Title
Piero Rinaldo, M.D., Ph.D. Use of profiles, ratios and 2nd tier testing to increase effectiveness of newborn screening

Poster Presentations

Thursday, March 29
8:00—10:00 a.m.

Abstract
Number
Topic
Title
53
Molecular
4
Biochemical
Development of efficient and effective newborn screening (NBS) strategies for Lysosomal Storage Disorders (LSD), Friedreich Ataxia, Wilson disease and X-Adrenoleukodystrophy
5
Biochemical
Discovery of an abnormal and unanticipated N-glycan biomarker for ALG1-CDG (CDG-Ik)

Thursday, March 29
10:30—11:30 a.m.

Abstract
Number
Topic
Title
323
Clinical
Chromosome Microarray (CMA) Results Impact Medical Management: A Demonstration of the Clinical Utility of CMA Testing
83
Biochemical
Different Onsets of Sandhoff Disease: Biochemical and Clinical Presentations
455
Molecular
Domino Liver Transplant – an unusual cause for abnormal serum transthyretin with no detectable germline mutations
495
Perinatal
Hypomethylation of Both Differentially Methylated Regions in the Beckwith Wiedemann Syndrome/Russell Silver Syndrome Locus on a Prenatal Sample with Ultrasound Findings Consistent with BWS
123
Cytogenetics
Improving the Quality of Chromosomal Microarray Data and Interpretation through Collaboration and Curation
87
Biochemical
Intrafamilial Variability in Late-Onset Tay-Sachs (LOTS): A Case Report of Presymptomatic LOTS
179
Clinical
MBD5 Gene-Containing 2q23.1 Microdeletion Syndrome: Further Delineation of the Clinical Phenotypes with Emphasis on Differential Diagnosis
253
Clinical
Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome: a case report
173
Clinical
Screening for Muir-Torre syndrome using mismatch repair gene immunohistochemistry on sebaceous skin lesions
487
Molecular
Translational Research in Newborn Screening: Development of a Tool for the Clinical Validation of Severe Combined Immune Deficiency (SCID) Newborn Screening

Friday, March 30
10:30—11:30 a.m.

Abstract
Number
Topic
Title
200
Clinical
Analysis of Maternal Risk Factors Associated with Congenital Vertebral Malformations
188
Clinical
Aortic Root Dilatation in 13-year-old with Dubowitz syndrome
136
Cytogenetics
Clinical Utility of Increased Resolution on Chromosomal Microarray
88
Biochemical
Double homozygous mutations in Profound Biotinidase Deficiency: A Case Study
218
Clinical
Microduplication syndrome 17p13: Increase copy number and implications on clinical phenotype
234
Clinical
Monozygotic twins with two microdeletions and clinical features of Goldenhar syndrome
330
Clinical
Should biallelic MYH mutations be included in the differential diagnosis for colorectal cancer without polyposis and polyposis without colorectal cancer? Case reports supporting this position
100
Cytogenetics
The Chicken or the Egg: Among Pregnancy Losses, does Polyploidy Predispose to Aneuploidy, or Aneuploidy to Polyploidy?
116
Cytogenetics
Trisomy 21 and Fetal Acute Myeloid Leukemia: A Case Report and Review of the Literature

Friday, March 30
3:45—5:45 p.m.

Abstract
Number
Topic
Title
9
Cytogenetics
Does parent of origin matter? Methylation results for a series of patients with multiple copies of the Prader-Willi/Angelman syndrome critical region

 

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Mayo Medical Laboratories

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