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

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,

Quantification of Parvovirus B19 DNA Using COBAS AmpliPrep Automated Sample Preparation and LightCycler Real-Time PCR Stefan Schorling, Gunnar Schalasta,

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.

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,

Genotyping of DNA Samples Isolated from Formalin-Fixed Paraffin-Embedded Tissues Using Preamplification Renee Baak-Pablo, Vincent Dezentje, Henk-Jan.

Whole Genome Amplification for Array Comparative Genomic Hybridization Using DNA Extracted from Formalin-Fixed, Paraffin-Embedded Histological Sections

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

Mutation Screening in Juvenile Polyposis Syndrome

Detection of Cytomegalovirus in Whole Blood Using Three Different Real-Time PCR Chemistries Erica Vincent, Zhengming Gu, Markus Morgenstern, Candace.

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

Detection of Microsatellite Instability in Colorectal Cancer Using an Alternative Multiplex Assay of Quasi-Monomorphic Mononucleotide Markers Vanessa.

FISH Analysis for the Detection of Lymphoma-Associated Chromosomal Abnormalities in Routine Paraffin-Embedded Tissue Roland A. Ventura, Jose I. Martin-Subero,

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

Multiplex Ligation-Dependent Probe Amplification

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,

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.

Influenza A Subtyping The Journal of Molecular Diagnostics

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

Thomas W. Prior, Scott J. Bridgeman

Getting Things Backwards to Prevent Primer Dimers

Detection of an Apparent Homozygous 3120G>A Cystic Fibrosis Mutation on a Routine Carrier Screen Denise LaMarche Heaney, Patrick Flume, Lauren Hamilton,

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

Improved Real-Time Multiplex Polymerase Chain Reaction Detection of Methylenetetrahydrofolate Reductase (MTHFR) 677C>T and 1298A>C Polymorphisms Using.

Keeping Up With the Next Generation

Rapid Diagnosis of α-Thalassemia by Melting Curve Analysis

Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next- Generation Sequencing on a Four-Gene Panel Ava Kwong, Vivian Y. Shin,

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

SeqSharp The Journal of Molecular Diagnostics

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 of an NPM1/MLF1 D-FISH Probe Set for the Detection of t(3;5)(q25;q35) Identified in Patients with Acute Myeloid Leukemia Umut Aypar, Ryan.

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.

The Molecular Pathology of Primary Immunodeficiencies

Serum DNA Motifs Predict Disease and Clinical Status in Multiple Sclerosis Julia Beck, Howard B. Urnovitz, Marina Saresella, Domenico Caputo, Mario Clerici,

A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

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

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

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

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

Ye Bang-Ce, Chu Xiaohe, Fan Ye, Li Songyang, Yin Bincheng, Zuo Peng

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

Association of MicroRNA Expression with Microsatellite Instability Status in Colorectal Adenocarcinoma Jonathan S.L. Earle, Rajyalakshmi Luthra, Angela.

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

Gayatry Mohapatra, Rebecca A. Betensky, Ezra R

Katy Hanlon, Lorna W. Harries, Sian Ellard, Claudius E. Rudin

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

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

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

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

A Novel Method to Compensate for Different Amplification Efficiencies between Patient DNA Samples in Quantitative Real-Time PCR Jules Meijerink, Caroline.

Rapid Allelic Discrimination by TaqMan PCR for the Detection of the Gilbert's Syndrome Marker UGT1A1*28 Ursula Ehmer, Tim O. Lankisch, Thomas J. Erichsen,

Use of Pyrosequencing of 16S rRNA Fragments to Differentiate between Bacteria Responsible for Neonatal Sepsis Jeanne A. Jordan, Allyson R. Butchko, Mary.

Two Novel Methods for Rapid Detection and Quantification of DNMT3A R882 Mutations in Acute Myeloid Leukemia Melissa Mancini, Syed Khizer Hasan, Tiziana.

Karen Snow-Bailey, Ph.D., 1961–2006

Jie Hu, Malini Sathanoori, Sally J. Kochmar, Urvashi Surti

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.

Immunohistochemistry versus Microsatellite Instability Testing for Screening Colorectal Cancer Patients at Risk for Hereditary Nonpolyposis Colorectal.

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

Identification of Cystic Fibrosis Variants by Polymerase Chain Reaction/Oligonucleotide Ligation Assay Karen M. Schwartz, Lisa L. Pike-Buchanan, Kasinathan.

Presentation transcript:

Detecting 22q11.2 Deletions by Use of Multiplex Ligation-Dependent Probe Amplification on DNA from Neonatal Dried Blood Spot Samples Karina M. Sørensen, Peter Agergaard, Charlotte Olesen, Paal S. Andersen, Lars A. Larsen, John R. Østergaard, Jan P. Schouten, Michael Christiansen The Journal of Molecular Diagnostics Volume 12, Issue 2, Pages 147-151 (March 2010) DOI: 10.2353/jmoldx.2010.090099 Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 A: A schematic representation of the physical map of chromosome 22q11 showing the locations of MLPA probes (top), LCR22s (black boxes), N25 FISH probe (green star), TUPLE1 FISH probe (hexagon), and the most common 22q11 deletions (red bars). B: An example of a MLPA electropherogram showing reduced signals of 22q11 probes and control fragments: Q-fragments (A), D-fragments (B), Chr. X fragment (C), and 22q11 probe signals (D). The Journal of Molecular Diagnostics 2010 12, 147-151DOI: (10.2353/jmoldx.2010.090099) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Graphical view of relative copy number values of all probes from each patient. Blue blocks represent the control group. White blocks represent the patients' control probes, and red blocks represent the patients' deleted probes. The Journal of Molecular Diagnostics 2010 12, 147-151DOI: (10.2353/jmoldx.2010.090099) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions