Application of a Clinical Whole-Transcriptome Assay for Staging and Prognosis of Prostate Cancer Diagnosed in Needle Core Biopsy Specimens

Beatrice S. Knudsen,Elai Davicioni,Heesun Shin,Hyung L. Kim,Imelda Tenggara,Jeffry P. Simko,June M. Chan,Karen Chadwich,Lucia L.C. Lam,Matthew R. Cooperberg,Mohammed Alshalalfa,Neil Fleshner,Nicholas Erho,Peter R. Carroll,Theo Van Der Kwast

The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing

Athena Cherry,Iris Schrijver,Lynn Pique,Martin Kharrazi,Michelle Pearl,Steve Graham

Precision Diagnosis Is a Team Sport

Barbara A. Zehnbauer,Timothy G. Buchman

Rapid Molecular Profiling of Myeloproliferative Neoplasms Using Targeted Exon Resequencing of 86 Genes Involved in JAK-STAT Signaling and Epigenetic Regulation

Andrew C. Perkins,Darren Korbie,Debra Taylor,Graham W. Magor,Matt Trau,Michael R. Tallack,Nathan M. Klose,Peter Mollee

Development and Validation of a Template-Independent Next-Generation Sequencing Assay for Detecting Low-Level Resistance-Associated Variants of Hepatitis C Virus

Bo Wei,Diane Levitan,Fred Lahser,John Kang,Lei Chen,Matthew Marton,Miho Kibukawa,Ping Qiu

The Spectrum of Clinical Utilities in Molecular Pathology Testing Procedures for Inherited Conditions and Cancer: A Report of the Association for Molecular Pathology

Elaine Lyon,Jill Hagenkord,Kay E. Jewell,Loren Joseph,Milena Cankovic,Paul G. Rothberg,Pranil Chandra,Rajyasree Emmadi,Robyn L. Temple-Smolkin,Roger D. Klein,Samuel Caughron,Stephanie Hallam,Victoria M. Pratt

Scientific Integrity Policy

Editorial Board

Table of Contents

Clinical Performance Evaluation of Molecular Diagnostic Tests

Bipasa Biswas

The Clinical Implications of Inconsistently Methylated Results from Glioblastoma MGMT Testing by Replicate Methylation-Specific PCR

Daniel Xia,David A. Reardon,Jacqueline L. Bruce,Neal I. Lindeman

Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array

Bekim Sadikovic,Charles Schwartz,Cindy Skinner,David I. Rodenhiser,Guillaume Pare,Laila C. Schenkel,Peter J. Ainsworth

Correction

Next-Generation Sequencing-Assisted DNA-Based Digital PCR for a Personalized Approach to the Detection and Quantification of Residual Disease in Chronic Myeloid Leukemia Patients

Alexandra S. Whale,Alistair G. Reid,Alona Sosinsky,Dalia Kasperaviciute,Dragana Milojkovic,Gareth Gerrard,Jane Apperley,Jim F. Huggett,Letizia Foroni,Martin Forbes,Mary Alikian,Michael Mueller,Peter Ellery

A Multiplexed Amplicon Approach for Detecting Gene Fusions by Next-Generation Sequencing

Abigail I. Wald,Andrea Warrick,Carol Beadling,Christopher L. Corless,Marina N. Nikiforova,Shan Zhong,Tanaya L. Neff,Yuri E. Nikiforov

A Suggested Molecular Pathology Curriculum for Residents: A Report of the Association for Molecular Pathology

Anna Berry,Charles E. Hill,D. Brian Dawson,Dara L. Aisner,Loren Joseph,Randall T. Hayden

Identification of Combinatorial Genomic Abnormalities Associated with Prostate Cancer Early Recurrence

Christopher Porter,Claudio Jeldres,Cynthia Friedman,Lena Glaskova,Min Fang,Peter S. Nelson,Sarah Schroeder,Xiaoyu Qu

Development and Validation of a Mass Spectrometry–Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease

Andreas Gnirke,Anthony J. Bleyer,Brendan Blumenstiel,Eric S. Lander,Heidi L. Rehm,Kendrah Kidd,Lucienne Ronco,Matthew DeFelice,Niall J. Lennon,Ozge Birsoy,Stacey Gabriel,Stanislav Kmoch,Todd A. Carter

A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families

Alexander Judkins,David Cobrinik,Dejerianne Ostrow,Dennis T. Maglinte,Jennifer G. Aparicio,Jonathan Buckley,Jonathan W. Kim,Lucy Viduetsky,Margaret Au,Maurice O'Gorman,Pedro A. Sanchez-Lara,Tatiana V. Tatarinova,Thomas C. Lee,Timothy J. Triche,Wenhui L. Li

Genome-Wide Single-Nucleotide Polymorphism Array Analysis Improves Prognostication of Acute Lymphoblastic Leukemia/Lymphoma

Dale Bixby,Diane Roulston,Lina Shao,Sue Miller,Yunhong Wang

The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis

Gessica Truglio,Giampiero Ferraguti,Giancarlo Testino,Marco Lucarelli,Roberto Strom,Sabina M. Bruno,Serena Quattrucci,Silvia Pierandrei

Table of Contents

Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing

Arto Kokkola,Gemma Armengol,Masoud Doghaei-Moghaddam,Masoud Sotoudeh,Pauli Puolakkainen,Reza Ansari,Reza Ghanbari,Reza Malekzadeh,Sakari Knuutila,Virinder K. Sarhadi

Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies

Delphine Lacourt,Déborah Mechin,Fabienne Danton,Melissa Alame,Michel Koenig,Mireille Claustres,Mireille Cossée,Reda Zenagui

Varying Mutational Alterations in Multiple Primary Melanomas

Ann-Sophie Bohne,Axel Hauschild,Christoph R？cken,Friederike Egberts,Jochen Haag,Jürgen Hedderich,Rainer Rompel,Sandra Krüger

Quantification of the Mutant CALR Allelic Burden by Digital PCR: Application to Minimal Residual Disease Evaluation after Bone Marrow Transplantation

Arnaud Saint-Lézer,Audrey Bidet,Bruno Cassinat,Chloé James,Emmanuelle Verger,Eric Lippert,Fran？ois-Xavier Mahon,Gérard Socié,Marie Robin,Marina Migeon,Olivier Mansier

Detection of Circulating BRAFV600E in Patients with Papillary Thyroid Carcinoma

Aislyn P. Schalck,Carrie C. Lubitz,David J. Panka,Hyunsuk Suh,Konstantinos P. Economopoulos,Lori J. Wirth,M. Jordana Bernasconi,Peter M. Sadow,Ryan J. Sullivan,Samuel E. Donovan,Sareh Parangi,Tammy M. Holm,Viswanath Gunda

Novel Epigenetic Markers on Chromosome 21 for Noninvasive Prenatal Testing of Fetal Trisomy 21

Da Eun Lee,Hyun Mee Ryu,Ji Hyae Lim,Min Hyoung Kim,So Yeon Park

Next-Generation Sequencing and Fluorescence in Situ Hybridization Have Comparable Performance Characteristics in the Analysis of Pancreaticobiliary Brushings for Malignancy

A. John Iafrate,Brenda Sweeney,Darrell Borger,David G. Forcione,Dora Dias-Santagata,Jonathan C. Dudley,Julie Batten,Kathy Vernovsky,Long P. Le,Martha B. Pitman,Ronald N. Arpin,Thomas McDonald,William R. Brugge,Zongli Zheng

The Application of Molecular Diagnostics to Stained Cytology Smears

Andrew Seymour,Antonio Cajigas,Eli Grunblatt,Esther Adler,Evan Pieri,Laleh Hakima,Maja H. Oktay,Mark Suhrland,Samer Khader,Sumanta Goswami

Technical Validation of a Next-Generation Sequencing Assay for Detecting Actionable Mutations in Patients with Gastrointestinal Cancer

Alexander Lezhava,Arun G. Devasia,Cassandra Z. He,Christopher W. Wong,Cindy E. Ching,Clarinda Chua,Daniel S.W. Tan,Dharuman Perumal,Dianne Y.S. Poh,Hui Maan Seah,Iain B. Tan,Jack L. Ow,James Z.Z. Qu,Katie H.T. Cheung,Lionel Lim,Lu Pan,Patrick Tan,Pauline C. Ng,Qiangze Hoi,Rachel Ten,Seow Eng Lee,Shimin Ang,Simeen Malik,Sophie R. Wang,Tony Lim,Yang Sun Chan,Yasmin M. Bylstra

Accurate Sample Assignment in a Multiplexed, Ultrasensitive, High-Throughput Sequencing Assay for Minimal Residual Disease

Edward Mountjoy,Gary Wright,Helen Williamson,Jack Bartram,Jeremy Hancock,John Moppett,Mike Hubank,Nick Goulden,Tony Brooks

Editorial Board

Analytical Validation and Application of a Targeted Next-Generation Sequencing Mutation-Detection Assay for Use in Treatment Assignment in the NCI-MPACT Trial

Alice P. Chen,Barbara A. Conley,Biswajit Das,Chih-Jian Lih,Courtney H. Bouk,David J. Sims,Eric C. Polley,James H. Doroshow,Kneshay N. Harper,Lawrence V. Rubinstein,Michele G. Mehaffey,Paul M. Williams,Richard M. Simon,Robin D. Harrington,Shivaani Kummar,Thomas D. Forbes,Vivekananda Datta,William D. Walsh,Yingdong Zhao

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

Cavatina Truong,Hui Yu,Jing Wang,John J. Mitchell,Klaas J. Wierenga,Lan Qin,Lee-Jun C. Wong,Victor Wei Zhang,William J. Craigen,Xia Tian

Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project

Amy Turner,Brittany N. Beyer,Chingying Huang Smith,Jun Liao,Lisa V. Kalman,Lorraine H. Toji,Paul Hujsak,Praful Aggarwal,Rachel Lorier,Robin E. Everts,Ruth Epstein-Baak,Ruth Kornreich,Stuart A. Scott,Ulrich Broeckel,Victoria M. Pratt

Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients

Ambra Spalletta,Angelo Barbato,Cecilia Salvoro,Deborah Snijders,Donatella Girosi,Francesca Boaretto,Giovanni Arturo Rossi,Giovanni Vazza,Maria Luisa Mostacciuolo,Michela Silvestri,Mirella Collura,Salvatore Cazzato

Next-Generation Sequencing in Cancer Diagnostics

Christopher L. Corless

Emerging and Future Applications of Matrix-Assisted Laser Desorption Ionization Time-of-Flight (MALDI-TOF) Mass Spectrometry in the Clinical Microbiology Laboratory: A Report of the Association for Molecular Pathology

Christopher D. Doern,Susan M. Butler-Wu

Reviewer Acknowledgment

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy

Antonia Alberti,Carlos Casasnovas,Carmen Espinós,Celedonio Márquez-Infante,Cristina Tello,Francisco García-García,Joaquín Dopazo,Liliana Villarreal,Mar García-Romero,Paula Sancho,Rafael Sivera,Samuel I. Pascual-Pascual,Teresa Sevilla,Vincenzo Lupo

Pitfalls of Multiple Ligation-Dependent Probe Amplifications in Detecting DMD Exon Deletions or Duplications

Anna Cho,Byung Chan Lim,Hyunwoong Park,Jee-Soo Lee,Ji Yeon Kim,Jong-Hee Chae,Man Jin Kim,Moon-Woo Seong,Seung Jun Lee,So Yeon Kim,Soo Hyun Seo,Sung Im Cho,Sung Sup Park

Mutation Spectrum of the Survival of Motor Neuron 1 and Functional Analysis of Variants in Chinese Spinal Muscular Atrophy

Fang Song,Hong Wang,Jin-li Bai,Juan Du,Sheng-xi He,Wen-hui Zhang,Xiu-shan Ge,Yan Li,Yan-yan Cao,Yu-jin Qu,Yu-wei Jin

Certified DNA Reference Materials to Compare HER2 Gene Amplification Measurements Using Next-Generation Sequencing Methods

Andrew Y. Kayserian,Biswajit Das,Chih-Jian Lih,Corinne E. Camalier,David J. Sims,Han Si,Hua-Jun He,Jamie L. Almeida,Kenneth D. Cole,Kneshay N. Harper,P. Mickey Williams,Paul M. McGregor,Robin D. Harrington,Steve Choquette,Steve P. Lund

Clinical Validation and Implementation of a Targeted Next-Generation Sequencing Assay to Detect Somatic Variants in Non-Small Cell Lung, Melanoma, and Gastrointestinal Malignancies

Annie S. Morrison,Anthony A. Gal,Bassel F. El-Rayes,Charles E. Hill,David H. Lawson,Debra F. Saxe,Fadlo R. Khuri,Gabriel L. Sica,Geoffrey H. Smith,H. Clifford Sullivan,Jason Wang,Karen P. Mann,Keith A. Delman,Kevin E. Fisher,Linsheng Zhang,Malania M. Wilson,Michael R. Rossi,N. Volkan Adsay,Ragini R. Kudchadkar,Rathi N. Pillai,Scott Newman,Serdar Balci,Suresh S. Ramalingam,Taofeek K. Owonikoko,Thomas M. Schneider

Three Rounds of External Quality Assessment in France to Evaluate the Performance of 28 Platforms for Multiparametric Molecular Testing in Metastatic Colorectal and Non-Small Cell Lung Cancer

Antoinette Lemoine,Aude Lamy,Bastiaan Tops,Caroline Egele,Catherine Andrieu,Cleo Keppens,Clotilde Descarpentries,Cécile Aube,Cédric Le Marechal,Dominique Fetique,Elisabeth M.C. Dequeker,Etienne Lonchamp,Etienne Rouleau,Florence Pedeutour,Frederique Nowak,Frederique Penault-Llorca,Han van Krieken,Hélène Blons,Isabelle Soubeyran,Jean-Christophe Sabourin,Jean-Fran？ois C？té,Jean-Fran？ois Emile,Jean-Michel Vignaud,Jean-Pierre Bellocq,Karen Leroy,Laurent Doucet,Marjolijn Ligtenberg,Nathalie Monhoven,Paul Hofman,Pierre Laurent-Puig,Sofie Delen,Valérie Duranton-Tanneur,Véronique Haddad,Yves Denoux

Author Index

Editorial Board

Diagnostic Detection of Allelic Losses and Imbalances by Next-Generation Sequencing: 1p/19q Co-Deletion Analysis of Gliomas

Hendrikus J. Dubbink,Johan M. Kros,Martin J. van den Bent,Niels M.G. Krol,Peggy N. Atmodimedjo,Peter H.J. Riegman,Ronald van Marion,Winand N.M. Dinjens

Editorial Board