Multiplex Ligation-Dependent Probe Amplification Versus Multiprobe Fluorescence in Situ Hybridization To Detect Genomic Aberrations in Chronic Lymphocytic.

Slides:

Advertisements

Similar presentations

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

Advertisements

Development of a Novel One-Tube Isothermal Reverse Transcription Thermophilic Helicase-Dependent Amplification Platform for Rapid RNA Detection James Goldmeyer,

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

Clinical Laboratory Analysis of Immunoglobulin Heavy Chain Variable Region Genes for Chronic Lymphocytic Leukemia Prognosis Philippe Szankasi, David.

A Genome-Wide High-Resolution Array-CGH Analysis of Cutaneous Melanoma and Comparison of Array-CGH to FISH in Diagnostic Evaluation Lu Wang, Mamta Rao,

EGFR Mutations in Lung Adenocarcinomas

Detection of Exon 12 Mutations in the JAK2 Gene

Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography, Direct Sequencing Analysis, Fluorescence in Situ Hybridization,

Whole-Genome Scanning by Array Comparative Genomic Hybridization as a Clinical Tool for Risk Assessment in Chronic Lymphocytic Leukemia Shelly R. Gunn,

Effectiveness of Capillary Electrophoresis Using Fluorescent-Labeled Primers in Detecting T-Cell Receptor γ Gene Rearrangements Timothy C. Greiner, Ronald.

Hendrikus J. Dubbink, Peggy N. Atmodimedjo, Ronald van Marion, Niels M

Establishment and Study of Different Real-Time Polymerase Chain Reaction Assays for the Quantification of Cells with Deletions of Chromosome 7 Elia Mattarucchi,

Yanggu Shi, Sharon F. Terry, Patrick F. Terry, Lionel G

Methylation-Specific Multiplex Ligation-Dependent Probe Amplification Enables a Rapid and Reliable Distinction between Male FMR1 Premutation and Full-Mutation.

Simultaneous Genotyping of GSTT1 and GSTM1 Null Polymorphisms by Melting Curve Analysis in Presence of SYBR Green I Fátima Marín, Nadia García, Xavier.

Multiplex Ligation-Dependent Probe Amplification

Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis.

Comparative Genomic Hybridization Analysis of Astrocytomas

A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2 Jianli Li, Hongzheng Dai, Yanming Feng, Jia Tang, Stella Chen,

Whole-Genome Scanning by Array Comparative Genomic Hybridization as a Clinical Tool for Risk Assessment in Chronic Lymphocytic Leukemia Shelly R. Gunn,

Jeung-Yeal Ahn, Katie Seo, Olga Weinberg, Scott D. Boyd, Daniel A

Customized Oligonucleotide Array-Based Comparative Genomic Hybridization as a Clinical Assay for Genomic Profiling of Chronic Lymphocytic Leukemia Rachel.

The Development of a Multitarget, Multicolor Fluorescence in Situ Hybridization Assay for the Detection of Urothelial Carcinoma in Urine Irina A. Sokolova,

A DNA Microarray for the Detection of Point Mutations and Copy Number Variation Causing Familial Hypercholesterolemia in Europe Marianne A. Stef, Lourdes.

Detecting 22q11.2 Deletions by Use of Multiplex Ligation-Dependent Probe Amplification on DNA from Neonatal Dried Blood Spot Samples Karina M. Sørensen,

Digital Multiplex Ligation-Dependent Probe Amplification for Detection of Key Copy Number Alterations in T- and B-Cell Lymphoblastic Leukemia Anne Benard-Slagter,

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

Identification of Combinatorial Genomic Abnormalities Associated with Prostate Cancer Early Recurrence Xiaoyu Qu, Claudio Jeldres, Lena Glaskova, Cynthia.

Keeping Up With the Next Generation

A Genome-Wide High-Resolution Array-CGH Analysis of Cutaneous Melanoma and Comparison of Array-CGH to FISH in Diagnostic Evaluation Lu Wang, Mamta Rao,

Clinical Laboratory Analysis of Immunoglobulin Heavy Chain Variable Region Genes for Chronic Lymphocytic Leukemia Prognosis Philippe Szankasi, David.

The Human Androgen Receptor X-Chromosome Inactivation Assay for Clonality Diagnostics of Natural Killer Cell Proliferations Michaël Boudewijns, Jacques.

Detection of Exon 12 Mutations in the JAK2 Gene

Development and Clinical Implementation of a Combination Deletion PCR and Multiplex Ligation-Dependent Probe Amplification Assay for Detecting Deletions.

A Multiplex qPCR Gene Dosage Assay for Rapid Genotyping and Large-Scale Population Screening for Deletional α-Thalassemia Wanjun Zhou, Ge Wang, Xuefeng.

SNPitty The Journal of Molecular Diagnostics

Cecily P. Vaughn, Kojo S.J. Elenitoba-Johnson

Development of a Quantitative Real-Time Polymerase Chain Reaction Assay for the Detection of the JAK2 V617F Mutation Elizabeth C. Wolstencroft, Katy.

Anatoliy A. Melnikov, Denise M. Scholtens, Elizabeth L. Wiley, Seema A

Custom-Designed MLPA Using Multiple Short Synthetic Probes

Assessment of the Frequency of Allelic Imbalance in Human Tissue Using a Multiplex Polymerase Chain Reaction System Christopher M. Heaphy, William C.

A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

Quantitative and Qualitative Analyses of the SNRPN Gene Using Real-Time PCR with Melting Curve Analysis Chia-Cheng Hung, Shin-Yu Lin, Shuan-Pei Lin,

EGFR Mutations in Lung Adenocarcinomas

Chromosomal Abnormalities in Non-Small Cell Lung Carcinomas and in Bronchial Epithelia of High-Risk Smokers Detected by Multi-Target Interphase Fluorescence.

Rapid One-Step Carrier Detection Assay of Mucolipidosis IV Mutations in the Ashkenazi Jewish Population Feras M. Hantash, Susan C. Olson, Ben Anderson,

Detection of BRAF V600E Mutation in Colorectal Cancer

A Simple Method to Confirm and Size Deletion, Duplication, and Insertion Mutations Detected by Sequence Analysis Lawrence N. Hjelm, Ephrem L.H. Chin,

Julie Di Cristofaro, Monique Silvy, Jacques Chiaroni, Pascal Bailly

Defining Ploidy-Specific Thresholds in Array Comparative Genomic Hybridization to Improve the Sensitivity of Detection of Single Copy Alterations in Cell.

Array Comparative Genomic Hybridization Detects Chromosomal Abnormalities in Hematological Cancers That Are Not Detected by Conventional Cytogenetics

The Detection of t(14;18) in Archival Lymph Nodes

Long Polymerase Chain Reaction-Based Fluorescence in Situ Hybridization Analysis of Female Carriers of X-Linked Chronic Granulomatous Disease Deletions

Rapid and Sensitive Real-Time Polymerase Chain Reaction Method for Detection and Quantification of 3243A>G Mitochondrial Point Mutation Rinki Singh,

Validation of High-Resolution DNA Melting Analysis for Mutation Scanning of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Marie-Pierre.

Amplification and Overexpression of the EMS 1 Oncogene, a Possible Prognostic Marker, in Human Hepatocellular Carcinoma Bao-Zhu Yuan, Xiaoling Zhou,

Gayatry Mohapatra, Rebecca A. Betensky, Ezra R

Multiplex PCR Detection of GSTM1, GSTT1, and GSTP1 Gene Variants

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

A Pyrosequencing-Based Assay for the Rapid Detection of the 22q11

Statistical Treatment of Fluorescence in Situ Hybridization Validation Data to Generate Normal Reference Ranges Using Excel Functions Allison L. Ciolino,

Karen Snow-Bailey, Ph.D., 1961–2006

Telomeric IGH Losses Detectable by Fluorescence in Situ Hybridization in Chronic Lymphocytic Leukemia Reflect Somatic VH Recombination Events Iwona Wlodarska,

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.

The MLPA assay and application to diagnosis of DGS

A Complex Rearrangement in the APC Gene Uncovered by Multiplex Ligation- Dependent Probe Amplification Constanze Pagenstecher, Dorothea Gadzicki, Dietlinde.

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

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

Quantification of bcl-2/JH Fusion Sequences and a Control Gene by Multiplex Real- Time PCR Coupled with Automated Amplicon Sizing by Capillary Electrophoresis

Presentation transcript:

Multiplex Ligation-Dependent Probe Amplification Versus Multiprobe Fluorescence in Situ Hybridization To Detect Genomic Aberrations in Chronic Lymphocytic Leukemia Eiman A. Al Zaabi, Louis A. Fernandez, Irene A. Sadek, D. Christie Riddell, Wenda L. Greer The Journal of Molecular Diagnostics Volume 12, Issue 2, Pages 197-203 (March 2010) DOI: 10.2353/jmoldx.2010.090046 Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 MLPA analysis of three CLL patients. A: Height ratio plot from a patient with heterozygous 13q14.1 and ATM deletions, normalized to that of a normal control. Copy number changes are seen as small red squares that lie outside the threshold detection (green line), which was set at 0.8–1.2. Small green and blue squares represent normal copy number of genes detected by a probe mix specific for CLL chromosomal sequences (green squares) and internal control probes (blue squares) targeting other chromosomes. MLPA probe amplification products below 130 nt represent DNA quantity control fragments. B: A CLL patient with homozygous 13q14.1 deletion. C: A peak profile method of viewing MLPA analysis. Each peak represents a specific probe amplification product. We show a CLL patient (blue) with heterozygous 13q14.3 deletion and trisomy 12 compared with a normal control group (red). The Journal of Molecular Diagnostics 2010 12, 197-203DOI: (10.2353/jmoldx.2010.090046) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions