A Highly Sensitive Genetic Protocol to Detect NF1 Mutations

Slides:

Advertisements

Similar presentations

Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease

Advertisements

Detection of Exon 12 Mutations in the JAK2 Gene

Performance Evaluation of the TheraTyper-GJB2 Assay for Detection of GJB2 Gene Mutations Ji-Yong Chun, Soo-Kyung Shin, Kyung Tae Min, Woojae Cho, Jaeil.

Carol Beadling, Tanaya L. Neff, Michael C

Simultaneous Genotyping of α-Thalassemia Deletional and Nondeletional Mutations by Real-Time PCR–Based Multicolor Melting Curve Analysis Qiuying Huang,

Improving Mutation Screening in Patients with Colorectal Cancer Predisposition Using Next-Generation Sequencing Jean-Marc Rey, Vincent Ducros, Pascal.

Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy Yu-jin Qu, Jin-li Bai, Yan-yan.

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

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

Angela Leo, Andrew M. Walker, Matthew S

Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease

A High-Resolution Melting Protocol for Rapid and Accurate Differential Diagnosis of Thyroid Nodules Irene Mancini, Pamela Pinzani, Cinzia Pupilli, Luisa.

Comparison of Allelic Discrimination by dHPLC, HRM, and TaqMan in the Detection of BRAF Mutation V600E Pablo Carbonell, María C. Turpin, Daniel Torres-Moreno,

Clinical Relevance of Sensitive and Quantitative STAT3 Mutation Analysis Using Next- Generation Sequencing in T-Cell Large Granular Lymphocytic Leukemia

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

A Pyrosequencing-Based Assay for the Rapid Detection of IDH1 Mutations in Clinical Samples Prashanth Setty, Jennifer Hammes, Thomas Rothämel, Valentina.

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

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

Simultaneous Genotyping of α-Thalassemia Deletional and Nondeletional Mutations by Real-Time PCR–Based Multicolor Melting Curve Analysis Qiuying Huang,

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

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

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

Performance Evaluation of the TheraTyper-GJB2 Assay for Detection of GJB2 Gene Mutations Ji-Yong Chun, Soo-Kyung Shin, Kyung Tae Min, Woojae Cho, Jaeil.

Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis Satoshi Hayano, Yusuke Okuno, Makiko Tsutsumi, Hidehito Inagaki,

Andrea Gaedigk, Amanda K. Riffel, J. Steven Leeder

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.

Reliable and Sensitive Detection of Fragile X (Expanded) Alleles in Clinical Prenatal DNA Samples with a Fast Turnaround Time Sara Seneca, Willy Lissens,

Detection of Exon 12 Mutations in the JAK2 Gene

Validation and Implementation of a Custom Next-Generation Sequencing Clinical Assay for Hematologic Malignancies Michael J. Kluk, R. Coleman Lindsley,

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

Comprehensive Diagnostic Testing for Stereocilin

Rapid Detection of TEM-Type Extended-Spectrum β-Lactamase (ESBL) Mutations Using Lights-On/Lights-Off Probes with Single-Stranded DNA Amplification Kenneth.

Sensitive Detection of Deletions of One or More Exons in the Neurofibromatosis Type 2 (NF2) Gene by Multiplexed Gene Dosage Polymerase Chain Reaction

Jamal H. Carter, Samantha N. McNulty, Patrick J. Cimino, Catherine E

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

Analysis of Rare APC Variants at the mRNA Level

Molecular and Functional Analysis of the Large 5′ Promoter Region of CFTR Gene Revealed Pathogenic Mutations in CF and CFTR-Related Disorders Sonia Giordano,

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

BRAF Mutation Testing in Solid Tumors

Comprehensive Mutation Analysis of the CYP21A2 Gene

EPCAM Germ Line Deletions as Causes of Lynch Syndrome in Spanish Patients Carla Guarinos, Adela Castillejo, Víctor-Manuel Barberá, Lucía Pérez-Carbonell,

A Multi-Exonic BRCA1 Deletion Identified in Multiple Families through Single Nucleotide Polymorphism Haplotype Pair Analysis and Gene Amplification with.

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

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

Application of COLD-PCR for Improved Detection of NF2 Mosaic Mutations

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

Performance and Clinical Evaluation of a Sensitive Multiplex Assay for the Rapid Detection of Common NPM1 Mutations Michael Hafez, Fei Ye, Keith Jackson,

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

Validation of Denaturing High Performance Liquid Chromatography as a Rapid Detection Method for the Identification of Human INK4A Gene Mutations Irene.

Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4

Complete Screening of 50 Patients with CHARGE Syndrome for Anomalies in the CHD7 Gene Using a Denaturing High-Performance Liquid Chromatography–Based.

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

Danielle C. Smith, Alina Esterhuizen, Jacquie Greenberg

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

A Platform for Rapid Detection of Multiple Oncogenic Mutations With Relevance to Targeted Therapy in Non–Small-Cell Lung Cancer Zengliu Su, Dora Dias-Santagata,

Novel Method for PIK3CA Mutation Analysis

Rapid Polymerase Chain Reaction-Based Detection of Epidermal Growth Factor Receptor Gene Mutations in Lung Adenocarcinomas Qiulu Pan, William Pao, Marc.

Improved Detection of KIT Exon 11 Duplications in Formalin-Fixed, Paraffin-Embedded Gastrointestinal Stromal Tumors Jerzy Lasota, Bartosz Wasag, Sonja.

A Novel and Rapid Method of Determining the Effect of Unclassified MLH1 Genetic Variants on Differential Allelic Expression Sheron Perera, Brian Li,

Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy- Terminal Domain Karin Gaudenz, Erich Roessler, Nandita Quaderi, Brunella.

Triplet Repeat Primed PCR (TP PCR) in Molecular Diagnostic Testing for Friedreich Ataxia Paola Ciotti, Emilio Di Maria, Emilia Bellone, Franco Ajmar,

Custom Design of a GeXP Multiplexed Assay Used to Assess Expression Profiles of Inflammatory Gene Targets in Normal Colon, Polyp, and Tumor Tissue Janice.

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

Mutations in CHEK2 Associated with Prostate Cancer Risk

Optimized Allele-Specific Real-Time PCR Assays for the Detection of Common Mutations in KRAS and BRAF Alois H. Lang, Heinz Drexel, Simone Geller-Rhomberg,

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

Presentation transcript:

A Highly Sensitive Genetic Protocol to Detect NF1 Mutations María Carmen Valero, Yolanda Martín, Elisabete Hernández-Imaz, Alba Marina Hernández, Germán Meleán, Ana María Valero, Francisco Javier Rodríguez-Álvarez, Dolores Tellería, Concepción Hernández-Chico The Journal of Molecular Diagnostics Volume 13, Issue 2, Pages 113-122 (March 2011) DOI: 10.1016/j.jmoldx.2010.09.002 Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 Schematic representation of the NF1 region and adjacent genes. The transcriptional orientation of the various genes is indicated by horizontal arrows or arrowheads. Low copy repeats (LCRs) are highlighted by gray boxes. Positions of the MLPA probes are indicated below the map by vertical arrows. The MLPA results for all of the patients (identified by NF case number) with a microdeletion are given and the patients from the validation group are shown above the dotted line. Normalized relative peak area (RPA) ratios indicating a deletion are denoted by an open triangle (RPA ≤ 0.7), and retention of two copies is indicated by a solid circle (0.7 < RPA > 1.3); solid squares indicate RPA value close to 1.3, but duplication was not confirmed by a different assay. The Journal of Molecular Diagnostics 2011 13, 113-122DOI: (10.1016/j.jmoldx.2010.09.002) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 2 A: DHPLC chromatograms detecting M1, M2, and M3 mutated alleles with the NF1 point mutations in cDNA fragment F12. Arrows indicate the wild type (wt) and the variant peaks in the elution profiles. B: cDNA sequence electropherograms for control individuals (lower panels) and those carrying mutations (arrows in upper panels). The Journal of Molecular Diagnostics 2011 13, 113-122DOI: (10.1016/j.jmoldx.2010.09.002) Copyright © 2011 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions