Quality Assurance for Duchenne and Becker Muscular Dystrophy Genetic Testing Lisa Kalman, Jay Leonard, Norman Gerry, Jack Tarleton, Christina Bridges,

Slides:

Advertisements

Similar presentations

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Advertisements

Measurement of Relative Copy Number of CDKN2A/ARF and CDKN2B in Bladder Cancer by Real-Time Quantitative PCR and Multiplex Ligation-Dependent Probe Amplification.

CyclinD1/CyclinD3 Ratio by Real-Time PCR Improves Specificity for the Diagnosis of Mantle Cell Lymphoma Carol D. Jones, Katherine H. Darnell, Roger A.

Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar The.

Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease

Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa Alan J. Mears, Linn Gieser, Denise.

Development of a Next-Generation Sequencing Method for BRCA Mutation Screening Maurice Chan, Shen Mo Ji, Zhen Xuan Yeo, Linda Gan, Eric Yap, Yoon Sim.

Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies Melissa Alame, Delphine Lacourt, Reda.

Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy C. Alexander.

Statistical Considerations for Immunohistochemistry Panel Development after Gene Expression Profiling of Human Cancers Rebecca A. Betensky, Catherine.

Laboratory Guidelines for Detection, Interpretation, and Reporting of Maternal Cell Contamination in Prenatal Analyses Narasimhan Nagan, Nicole E. Faulkner,

The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients

Cystic Fibrosis The Journal of Molecular Diagnostics

Molecular Genetics of Pediatric Soft Tissue Tumors

Wanlong Ma, Hagop Kantarjian, Xi Zhang, Chen-Hsiung Yeh, Zhong J

Mutation Screening in Juvenile Polyposis Syndrome

Joanna Wang, Chetan Bettegowda The Journal of Molecular Diagnostics

Volume 24, Issue 11, Pages (November 2016)

Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease

Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications Man Jin Kim, Sung Im Cho, Jong-Hee Chae,

281. Rapid Generation of Induced Pluripotent Stem Cells (iPSCs) from the Urine of a Patient with Duchenne Muscular Dystrophy Molecular Therapy Volume.

Increased Sensitivity of the Roche COBAS AMPLICOR HCV Test, Version 2

Design and Multiseries Validation of a Web-Based Gene Expression Assay for Predicting Breast Cancer Recurrence and Patient Survival Ryan K. Van Laar

Cornelis J. J. Huijsmans, Jeroen Poodt, Paul H. M. Savelkoul, Mirjam H

The History and Impact of Molecular Coding Changes on Coverage and Reimbursement of Molecular Diagnostic Tests Susan J. Hsiao, Mahesh M. Mansukhani,

High Resolution Melting Analysis for JAK2 Exon 14 and Exon 12 Mutations Inmaculada Rapado, Silvia Grande, Enriqueta Albizua, Rosa Ayala, José-Angel Hernández,

A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta Antonella Fuccio, Mariangela Iorio, Felice Amato,

Thomas W. Prior, Scott J. Bridgeman

Getting Things Backwards to Prevent Primer Dimers

Patrick R. Murray The Journal of Molecular Diagnostics

William L. Gerald, M.D., Ph.D, 1954–2008

Christine L. Baker, Cecily P. Vaughn, Wade S. Samowitz

A Larger Spectrum of Intragenic Short Tandem Repeats Improves Linkage Analysis and Localization of Intragenic Recombination Detection in the Dystrophin.

Multi-Site PCR-Based CMV Viral Load Assessment-Assays Demonstrate Linearity and Precision, but Lack Numeric Standardization Daynna J. Wolff, Denise LaMarche.

Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing Gemma Armengol, Virinder K. Sarhadi,

Comprehensive Diagnostic Testing for Stereocilin

Development of a Next-Generation Sequencing Method for BRCA Mutation Screening Maurice Chan, Shen Mo Ji, Zhen Xuan Yeo, Linda Gan, Eric Yap, Yoon Sim.

Utility of NIST Whole-Genome Reference Materials for the Technical Validation of a Multigene Next-Generation Sequencing Test Bennett O.V. Shum, Ilya.

Benjamin P. Song, Surbhi Jain, Selena Y. Lin, Quan Chen, Timothy M

Target-Enriched Next-Generation Sequencing Reveals Differences between Primary and Secondary Ovarian Tumors in Formalin-Fixed, Paraffin-Embedded Tissue

Christine Formisano-Tréziny, Marina de San Feliciano, Jean Gabert

BRAF Mutation Testing in Solid Tumors

Skin Biopsy Is a Practical Approach for the Clinical Diagnosis and Molecular Genetic Analysis of X-Linked Alport's Syndrome Fang Wang, Dan Zhao, Jie.

Victoria M. Pratt, Robin E. Everts, Praful Aggarwal, Brittany N

The Molecular Pathology of Primary Immunodeficiencies

A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

Larissa V. Furtado, Helmut C. Weigelin, Kojo S. J

Sarah E. Kerr, Cheryl B. Thomas, Stephen N. Thibodeau, Matthew J

A Novel Long-Range PCR Sequencing Method for Genetic Analysis of the Entire PKD1 Gene Ying-Cai Tan, Alber Michaeel, Jon Blumenfeld, Stephanie Donahue,

Genomic Technologies and the New Era of Genomic Medicine

Jianbo Song, Danielle Mercer, Xiaofeng Hu, Henry Liu, Marilyn M. Li

Molecular Monitoring of Chronic Myeloid Leukemia

Matthew D. Wilkerson, Jason M. Schallheim, D. Neil Hayes, Patrick J

DNA and RNA References for qRT-PCR Assays in Exfoliated Cervical Cells

Avoiding Pitfalls in Molecular Genetic Testing

Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4

Erratum The American Journal of Human Genetics

Ming-Tseh Lin, Li-Hui Tseng, Roy G. Rich, Michael J

Validation for Clinical Use of, and Initial Clinical Experience with, a Novel Approach to Population-Based Carrier Screening using High-Throughput, Next-Generation.

Feras M. Hantash, Arlene Rebuyon, Mei Peng, Joy B

Inherited Cardiomyopathies

Cecily P. Vaughn, Elaine Lyon, Wade S. Samowitz

Karen Snow-Bailey, Ph.D., 1961–2006

Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene Feras M. Hantash, Joy B. Redman,

Improved Detection of the KIT D816V Mutation in Patients with Systemic Mastocytosis Using a Quantitative and Highly Sensitive Real-Time qPCR Assay Thomas.

Establishment of a Molecular Diagnostic System for Spinal Muscular Atrophy Jian Zeng, Yanhong Lin, Aizhen Yan, Longfeng Ke, Zhongyong Zhu, Fenghua Lan

Multiplex Ligation-Dependent Probe Amplification Identification of Whole Exon and Single Nucleotide Deletions in the CFTR Gene of Hispanic Individuals.

Angiotensin I-Converting Enzyme

Monique A. Johnson, Marvin J. Yoshitomi, C. Sue Richards

The History and Impact of Molecular Coding Changes on Coverage and Reimbursement of Molecular Diagnostic Tests Susan J. Hsiao, Mahesh M. Mansukhani,

Presentation transcript:

Quality Assurance for Duchenne and Becker Muscular Dystrophy Genetic Testing Lisa Kalman, Jay Leonard, Norman Gerry, Jack Tarleton, Christina Bridges, Julie M. Gastier-Foster, Robert E. Pyatt, Eileen Stonerock, Monique A. Johnson, C. Sue Richards, Iris Schrijver, Tianhui Ma, Vanessa Rangel Miller, Yetsa Adadevoh, Pat Furlong, Christine Beiswanger, Lorraine Toji The Journal of Molecular Diagnostics Volume 13, Issue 2, Pages 167-174 (March 2011) DOI: 10.1016/j.jmoldx.2010.11.018 Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 Composition of DMD reference material panel. Schema of the promoter (P) and 79 exons of the DMD gene are indicated by numbered black rectangles. The locations of deletions or duplications of DMD exons in each cell line are indicated by horizontal bars. Duplications are indicated above the exon map, and deletions are shown below. The exonic locations of point mutations are indicated by vertical lines. Coriell numbers (GMXXXXX) are shown for each cell line, and DNA from female donors is indicated with an asterisk. The Journal of Molecular Diagnostics 2011 13, 167-174DOI: (10.1016/j.jmoldx.2010.11.018) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions