Analytical Validation of a Personalized Medicine APOL1 Genotyping Assay for Nondiabetic Chronic Kidney Disease Risk Assessment

Anastasia Fedick,Erwin P. Bottinger,Geping Zhao,Jinglan Zhang,Lisa Edelmann,Ruth Kornreich,Stephanie Wasserman,Stuart A. Scott

Instructions for Authors

Reality of Single Circulating Tumor Cell Sequencing for Molecular Diagnostics in Pancreatic Cancer

Carolyn Hsieh,Colin M. Court,Hsian-Rong Tseng,Jacob S. Ankeny,James S. Tomlinson,Matthew M. Rochefort,Min Song,Qingyu Li,Shonan Sho,Shuang Hou,Thomas G. Graeber,Xinfang Liao,Zev A. Wainberg

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis

Alan Stuart,Alexander Levstik,Anthony C. Rupar,Barry Eng,Bekim Sadikovic,Christopher J. Howlett,Crystal Woodside,Jack Reilly,Jennifer Kerkhof,Joan H.M. Knoll,John S. Waye,Laila C. Schenkel,Peter Ainsworth

Defining the Performance Parameters of a Rapid Screening Tool for FMR1 CGG-Repeat Expansions Based on Direct Triplet-Primed PCR and Melt Curve Analysis

Anh H. Tran,Caroline G. Lee,Huong T.-M. Le,Indhu-Shree Rajan-Babu,Minh N. Thanh,Mulias Lian,Samuel S. Chong,Truong T. Dang

Table of Contents

Sanger Confirmation Is Required to Achieve Optimal Sensitivity and Specificity in Next-Generation Sequencing Panel Testing

Aaron M. Elliott,Hsiao-Mei Lu,Jefferey Chen,Shuwei Li,Wenbo Mu

High-Resolution Genomic Profiling of Disseminated Tumor Cells in Prostate Cancer

Colm Morrissey,Jamie R. Schoenborn,Jing Xia,Lisha G. Brown,Min Fang,Paul H. Lange,Peter S. Nelson,Robert L. Vessella,Sandy Larson,Xiaoyu Qu,Yu Wu

Ultrasensitive Detection of Multiplexed Somatic Mutations Using MALDI-TOF Mass Spectrometry

Aleksey A. Nakorchevsky,Anders O.H. Nygren,Dirk J. van den Boom,Eunice Flores,Heath Metzler,James L. Sherwood,Mathias Ehrich,Michael J. Mosko

Genomic Sequencing Procedure Microcosting Analysis and Health Economic Cost-Impact Analysis: A Report of the Association for Molecular Pathology

Aaron D. Bossler,Charles Mathews,Devon Ptak,Katherine Tynan,Linda M. Sabatini,Madhuri R. Hegde,Shivang Doshi,Tara L. Burke

Eligibility Criteria and Genetic Testing Results from a High-Risk Cohort for Hereditary Breast and Ovarian Cancer Syndrome in Southeastern Ontario

Andrea Hawrysh,Harriet Feilotter,Jagdeep S. Walia,Ricardo dos Santos Vidal,Scott Davey

Sensitivity Analysis of the MGMT-STP27 Model and Impact of Genetic and Epigenetic Context to Predict the MGMT Methylation Status in Gliomas and Other Tumors

Mauro Delorenzi,Monika E. Hegi,Pierre Bady

Table of Contents

The Detection of Infectious Prions: In Vitro Conversion Assays Change the (Folding) Landscape

Holger Wille

Somatic Mutations of PI3K in Early and Advanced Gallbladder Cancer: Additional Options for an Orphan Cancer

Anakaren Game,Gonzalo de Toro,Hernan Garcia,Ivan Roa,Milind Javle,Xabier de Aretxabala

Optimization of a Relative Telomere Length Assay by Monochromatic Multiplex Real-Time Quantitative PCR on the LightCycler 480: Sources of Variability and Quality Control Considerations

Abhinav Ajaykumar,Anthony Y.Y. Hsieh,Beheroze Sattha,Hélène C.F. C？té,Izabella Gadawski,Kyle Hukezalie,Sara Saberi

Multicenter Evaluation of a Novel Automated Rapid Detection System of BRAF Status in Formalin-Fixed, Paraffin-Embedded Tissues

Ana-Iris Schiefer,Andreas von Deimling,Annika Lehmann,Berthold Streubel,Frederick Klauschen,Ildiko Mesteri,Laura Parlow,Lisa Gabler,Manfred Dietel,Markus M？bs,Matthias Preusser,Michael Hummel,Oskar Koperek,Patrick Pauwels,Peter Birner,Suzan Lambin,Udo Kellner

The Pitfalls of Companion Diagnostics: Evaluation of Discordant EGFR Mutation Results from a Clinical Laboratory and a Central Laboratory

Christopher I. Amos,Francine B. de Abreu,Gregory J. Tsongalis,Jason D. Peterson,Jason R. Pettus,Konstantin H. Dragnev,Scott A. Turner

RNA Detection in Urine: From RNA Extraction to Good Normalizer Molecules

Jesús M. Paramio,Marta Due？as,Mónica Martínez-Fernández

Characterization of Deletions of the HBA and HBB Loci by Array Comparative Genomic Hybridization

Alex Kentsis,Daniel E. Sabath,Esther Vamos,Harvey A. Greisman,Hye-Son Yi,Michael A. Bender,Vijay G. Sankaran

Development and Validation of a Fully Automated Platform for Extended Blood Group Genotyping

Benjamin P. Corgier,Celine A. Mandon,Christophe A. Marquette,Gaelle C. Le Goff,Lo？c J. Blum,Stephanie A. Boccoz

Table of Contents

Detection of Colorectal Cancer Using a Simplified SEPT9 Gene Methylation Assay Is a Reliable Method for Opportunistic Screening

Dong Wu,Guangpeng Zhou,Guiqi Wang,Jiaming Qian,Jianming Wang,Jianqiu Sheng,Jiqing Zhu,Lele Song,Peng Jin,Qi Wu,Shijie Li,Xiaoliang Han

Next-Generation Proficiency Testing

Jeremy P. Segal

Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel

Anthony T.C. Wong,Ava Kwong,Bui K. Ip,Chun H. Au,Dona N. Ho,Edmond S.K. Ma,Fian B.F. Law,Gigi Choy,James M. Ford,Rene M.Y. To,Silvia S. Lau,Tsun L. Chan,Vivian Y. Shin

Comparative Evaluation of Four Real-Time PCR Methods for the Quantitative Detection of Epstein-Barr Virus from Whole Blood Specimens

Daelynn Buelow,Li Tang,Randall Hayden,Stanley Pounds,Yilun Sun,Zhengming Gu

Robust Detection of DNA Hypermethylation of ZNF154 as a Pan-Cancer Locus with in Silico Modeling for Blood-Based Diagnostic Development

Alice C. Young,Daphne W. Bell,Gennady Margolin,Hanna M. Petrykowska,Laura Elnitski,Nader Jameel

Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis

Curt Scharfe,Eula Fung,Gang Peng,Iris Schrijver,Justin I. Odegaard,Martin Kharrazi,Martina I. Lefterova,Peidong Shen,Ronald W. Davis,Tsoyu Chiang,Wenyi Wang

External Quality Assessment for Detection of Fetal Trisomy 21, 18, and 13 by Massively Parallel Sequencing in Clinical Laboratories

Hongyun Zhang,Jiehong Xie,Jinming Li,Rui Zhang,Yanxi Han,Yulong Li

Quantitative Detection and Resolution of BRAF V600 Status in Colorectal Cancer Using Droplet Digital PCR and a Novel Wild-Type Negative Assay

Aly Karsan,Charles Haynes,Curtis Hughesman,Dean Attali,Jennifer Bryan,Jennifer R. Won,Kareem Fakhfakh,Kelly McNeil,Robert Wolber,Roza Bidshahri

Disclosures Statement

Validation of a Clinical-Grade Assay to Measure Donor-Derived Cell-Free DNA in Solid Organ Transplant Recipients

Cindy Christopherson,David J. Hiller,David Ross,James P. Yee,John J. Sninsky,John P. Collins,Judith C. Wilber,Kathryn Thompson,Lane A. Eubank,Maria G. Crespo-Leiro,Marica Grskovic,Mindy Song,Mitchell J. Nelles,Robert N. Woodward,Susan L. Scott,Yue S. Wang

Improving Accuracy of Urinary miRNA Quantification in Heparinized Patients Using Heparinase I Digestion

Cornelia J. Verhoeven,Henk P. Roest,Jan N.M. IJzermans,Jeroen de Jonge,Jubi E. de Haan,Luc J.W. van der Laan

Abstracts

Hepatitis C Virus RNA Real-Time Quantitative RT-PCR Method Based on a New Primer Design Strategy

Guigao Lin,Jinming Li,Kuo Zhang,Lida Chen,Lunan Wang,Mingju Hao,Rui Zhang,Tian Lu,Tingting Jia,Wenli Li,Yu Sun

Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cascade

Brenda E. Moore,Douglas L. VanCuyk,Eric W. Klee,Jamie K. Bruflat,Jennifer M. Skierka,John L. Black,Joseph H. Blommel,Laura J. Train,Linnea M. Baudhuin,Lisa M. Peterson,Matthew J. Ferber,Numrah Fadra,Pedro J. Caraballo,Richard M. Weinshilboum,Sandra E. Peterson,Susan A. Lagerstedt,Suzette J. Bielinski,Tamra L. Veldhuizen,Yuan Ji

Defining and Assessing Analytical Performance Criteria for Transmissible Spongiform Encephalopathy–Detecting Amyloid Seeding Assays

Ben Vuong,Catherine Graham,Eric Paxman,John G. Gray,Sandor Dudas,Stefanie Czub

Editorial Board

Cystic Fibrosis: A Review of Associated Phenotypes, Use of Molecular Diagnostic Approaches, Genetic Characteristics, Progress, and Dilemmas

Iris Schrijver,Marie-Luise Brennan

Health Care Infrastructure for Financially Sustainable Clinical Genomics

A. John Iafrate,Albrecht Stenzinger,Anne Klibanski,David A. Sweetser,David N. Louis,David Rasmussen,Harland S. Winter,Heather M. McLaughlin,Heidi L. Rehm,Jason M. Baron,Jeffrey A. Golden,Jeremy D. Schmahmann,Jochen K. Lennerz,Julie Miller Batten,Kathryn J. Swoboda,Long P. Le,Maciej Pacula,Manish K. Gala,Marianne Boswell,Meini Sumbada Shin,Nancy Berners-Lee,Scott T. Weiss,Stephen W. Black-Schaffer,William Hynes

Challenges in Determining Genotypes for Pharmacogenetics in Allogeneic Hematopoietic Cell Transplant Recipients

Dimpy P. Shah,Elizabeth J. Shpall,Jacques M. Azzi,John L. Black,Katy Rezvani,Lior Nesher,Loralie J. Langman,Roy F. Chemaly

Molecular Cytogenetic Analysis of JAZF1, PHF1, and YWHAE in Endometrial Stromal Tumors: Discovery of Genetic Complexity by Fluorescence in Situ Hybridization

Jennelle C. Hodge,Kathryn E. Pearce,Patrick P. Bedroske,William R. Sukov

Multi-Institutional FASTQ File Exchange as a Means of Proficiency Testing for Next-Generation Sequencing Bioinformatics and Variant Interpretation

Anthony Magliocco,Charles E. Hill,Dahui Qin,Dara L. Aisner,Erica Ramos,Geoffrey H. Smith,Heather Jones,Jason Y. Park,Julie Woolworth-Hirschhorn,Kenneth L. Jones,Kurtis D. Davies,Linsheng Zhang,Michael R. Rossi,Midhat S. Farooqi,Midori Mitui,Mike Gruidl,Nirali M. Patel,Philip H. O'Neill,Rebecca O'Rourke,Thomas M. Schneider

Editorial Board

Validation and Implementation of a Custom Next-Generation Sequencing Clinical Assay for Hematologic Malignancies

David Szeto,Dimity Hall,Frank C. Kuo,Jon C. Aster,Michael J. Kluk,Neal I. Lindeman,R. Coleman Lindsley

Hybridization-Induced Aggregation Technology for Practical Clinical Testing: KRAS Mutation Detection in Lung and Colorectal Tumors

Hillary S. Sloane,James P. Landers,Kimberly A. Kelly

Correction

Comprehensive Screening of Gene Copy Number Aberrations in Formalin-Fixed, Paraffin-Embedded Solid Tumors Using Molecular Inversion Probe–Based Single-Nucleotide Polymorphism Array

Abraham Ronald,Alaa A. Almohammedsalim,Alex Bosamra,Ayesagul Sahin,Bal Mukund Mishra,Hui Chen,Keyur P. Patel,L. Jeffrey Medeiros,Mark J. Routbort,Meenakshi Mehrotra,Rajesh R. Singh,Rajyalakshmi Luthra,Shumaila Virani,Xinyan Lu

A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X–Related Disorders

Bruce E. Hayward,Daman Kumari,Karen Usdin,Yifan Zhou

Clinical Validity and Utility: Putting the Patient Front and Center

Daniel H. Farkas