Analytical Validation of a Personalized Medicine APOL1 Genotyping Assay for Nondiabetic Chronic Kidney Disease Risk Assessment  Jinglan Zhang, Anastasia.

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

A Multiplex qPCR Gene Dosage Assay for Rapid Genotyping and Large-Scale Population Screening for Deletional α-Thalassemia Wanjun Zhou, Ge Wang, Xuefeng.
Development of a Novel One-Tube Isothermal Reverse Transcription Thermophilic Helicase-Dependent Amplification Platform for Rapid RNA Detection James Goldmeyer,
CyclinD1/CyclinD3 Ratio by Real-Time PCR Improves Specificity for the Diagnosis of Mantle Cell Lymphoma Carol D. Jones, Katherine H. Darnell, Roger A.
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.
Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease
KRAS and BRAF Mutation Analysis in Routine Molecular Diagnostics
Assessment of Target Enrichment Platforms Using Massively Parallel Sequencing for the Mutation Detection for Congenital Muscular Dystrophy  C. Alexander.
Simultaneous Genotyping of α-Thalassemia Deletional and Nondeletional Mutations by Real-Time PCR–Based Multicolor Melting Curve Analysis  Qiuying Huang,
KRAS and BRAF Mutation Analysis in Routine Molecular Diagnostics
Laboratory Guidelines for Detection, Interpretation, and Reporting of Maternal Cell Contamination in Prenatal Analyses  Narasimhan Nagan, Nicole E. Faulkner,
Stephanie L. Angione, Aartik A
Rapid Genotyping of Single Nucleotide Polymorphisms Influencing Warfarin Drug Response by Surface-Enhanced Laser Desorption and Ionization Time-of-Flight.
Multiplex Preamplification of Serum DNA to Facilitate Reliable Detection of Extremely Rare Cancer Mutations in Circulating DNA by Digital PCR  Jennifer.
A Multiplex SNaPshot Assay as a Rapid Method for Detecting KRAS and BRAF Mutations in Advanced Colorectal Cancers  Sandrine Magnin, Erika Viel, Alice.
Development and Validation of a Preanalytic Procedure for Performing the cobas HPV Test in SurePath Preservative Fluid  Mark D. Krevolin, David Hardy,
Establishment and Study of Different Real-Time Polymerase Chain Reaction Assays for the Quantification of Cells with Deletions of Chromosome 7  Elia Mattarucchi,
A DNA Real-Time Quantitative PCR Method Suitable for Routine Monitoring of Low Levels of Minimal Residual Disease in Chronic Myeloid Leukemia  Paul A.
Application of Single-Molecule Amplification and Resequencing Technology for Broad Surveillance of Plasma Mutations in Patients with Advanced Lung Adenocarcinoma 
Joanna Wang, Chetan Bettegowda  The Journal of Molecular Diagnostics 
Triplet Repeat Primed PCR Simplifies Testing for Huntington Disease
Application of Single-Molecule Amplification and Resequencing Technology for Broad Surveillance of Plasma Mutations in Patients with Advanced Lung Adenocarcinoma 
Comparison of High-Resolution Melting Analysis, TaqMan Allelic Discrimination Assay, and Sanger Sequencing for Clopidogrel Efficacy Genotyping in Routine.
Molecular Diagnosis of Autosomal Dominant Polycystic Kidney Disease Using Next- Generation Sequencing  Adrian Y. Tan, Alber Michaeel, Genyan Liu, Olivier.
Copy Number Variation Sequencing for Comprehensive Diagnosis of Chromosome Disease Syndromes  Desheng Liang, Ying Peng, Weigang Lv, Linbei Deng, Yanghui.
Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA  Jennifer Reiner, Lisa Karger, Ninette Cohen, Lakshmi Mehta,
Frequency and Spectrum of BRAF Mutations in a Retrospective, Single-Institution Study of 1112 Cases of Melanoma  Wesley O. Greaves, Shalini Verma, Keyur.
Hou-Sung Jung, Gregory J. Tsongalis, Joel A. Lefferts 
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,
Getting Things Backwards to Prevent Primer Dimers
Patrick R. Murray  The Journal of Molecular Diagnostics 
Andrea Gaedigk, Amanda K. Riffel, J. Steven Leeder 
Christine L. Baker, Cecily P. Vaughn, Wade S. Samowitz 
Clinical Laboratory Analysis of Immunoglobulin Heavy Chain Variable Region Genes for Chronic Lymphocytic Leukemia Prognosis  Philippe Szankasi, David.
Driver Gene Mutations in Stools of Colorectal Carcinoma Patients Detected by Targeted Next-Generation Sequencing  Gemma Armengol, Virinder K. Sarhadi,
Development and Clinical Implementation of a Combination Deletion PCR and Multiplex Ligation-Dependent Probe Amplification Assay for Detecting Deletions.
Comprehensive Diagnostic Testing for Stereocilin
Catherine E. Keegan, Anthony A. Killeen 
Multiplex Amplification Coupled with COLD-PCR and High Resolution Melting Enables Identification of Low-Abundance Mutations in Cancer Samples with Low.
The c.1364C>A (p.A455E) Mutation in the CFTR Pseudogene Results in an Incorrectly Assigned Carrier Status by a Commonly Used Screening Platform  Kristin.
Benjamin P. Song, Surbhi Jain, Selena Y. Lin, Quan Chen, Timothy M
BRAF Mutation Testing in Solid Tumors
Victoria M. Pratt, Robin E. Everts, Praful Aggarwal, Brittany N
Multiplex Bead Suspension Array for Screening Neisseria gonorrhoeae Antibiotic Resistance Genetic Determinants in Noncultured Clinical Samples  Sergey.
Highly Sensitive Droplet Digital PCR Method for Detection of EGFR-Activating Mutations in Plasma Cell–Free DNA from Patients with Advanced Non–Small Cell.
Technical Validation of a Next-Generation Sequencing Assay for Detecting Clinically Relevant Levels of Breast Cancer–Related Single-Nucleotide Variants.
Larissa V. Furtado, Helmut C. Weigelin, Kojo S. J
Multiplex Amplification Coupled with COLD-PCR and High Resolution Melting Enables Identification of Low-Abundance Mutations in Cancer Samples with Low.
Larissa V. Furtado, Helmut C. Weigelin, Kojo S. J
External Quality Assessment for Detection of Fetal Trisomy 21, 18, and 13 by Massively Parallel Sequencing in Clinical Laboratories  Rui Zhang, Hongyun.
An Allele-Specific PCR System for Rapid Detection and Discrimination of the CYP2C19∗4A, ∗4B, and ∗17 Alleles  Stuart A. Scott, Qian Tan, Usman Baber,
Application of COLD-PCR for Improved Detection of NF2 Mosaic Mutations
A Novel Long-Range PCR Sequencing Method for Genetic Analysis of the Entire PKD1 Gene  Ying-Cai Tan, Alber Michaeel, Jon Blumenfeld, Stephanie Donahue,
Retrospective Comparison of Nucleic Acid Sequence–Based Amplification, Real-Time PCR, and Galactomannan Test for Diagnosis of Invasive Aspergillosis 
Next-Generation Sequencing for Infectious Disease Diagnosis and Management  Martina I. Lefterova, Carlos J. Suarez, Niaz Banaei, Benjamin A. Pinsky  The.
Lisa Edelmann, Jianli Dong, Robert J. Desnick, Ruth Kornreich 
Amplification Refractory Mutation System, a Highly Sensitive and Simple Polymerase Chain Reaction Assay, for the Detection of JAK2 V617F Mutation in Chronic.
Multiplex PCR Detection of GSTM1, GSTT1, and GSTP1 Gene Variants
Danielle C. Smith, Alina Esterhuizen, Jacquie Greenberg 
Improved Detection of KIT Exon 11 Duplications in Formalin-Fixed, Paraffin-Embedded Gastrointestinal Stromal Tumors  Jerzy Lasota, Bartosz Wasag, Sonja.
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,
Custom Design of a GeXP Multiplexed Assay Used to Assess Expression Profiles of Inflammatory Gene Targets in Normal Colon, Polyp, and Tumor Tissue  Janice.
Xiangfeng Cui, Helen Feiner, Honghua Li 
This Month in AJKD American Journal of Kidney Diseases
Improved Detection of the KIT D816V Mutation in Patients with Systemic Mastocytosis Using a Quantitative and Highly Sensitive Real-Time qPCR Assay  Thomas.
Establishment of a Molecular Diagnostic System for Spinal Muscular Atrophy  Jian Zeng, Yanhong Lin, Aizhen Yan, Longfeng Ke, Zhongyong Zhu, Fenghua Lan 
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,
Warfarin Pharmacogenetics: CYP2C9 and VKORC1 Genotypes Predict Different Sensitivity and Resistance Frequencies in the Ashkenazi and Sephardi Jewish.
Presentation transcript:

Analytical Validation of a Personalized Medicine APOL1 Genotyping Assay for Nondiabetic Chronic Kidney Disease Risk Assessment  Jinglan Zhang, Anastasia Fedick, Stephanie Wasserman, Geping Zhao, Lisa Edelmann, Erwin P. Bottinger, Ruth Kornreich, Stuart A. Scott  The Journal of Molecular Diagnostics  Volume 18, Issue 2, Pages 260-266 (March 2016) DOI: 10.1016/j.jmoldx.2015.11.003 Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 PCR and multiplex allele-specific primer extension (ASPE) primer locations for APOL1 genotyping and Sanger sequencing. The NG_023228 genomic sequence of the APOL1 gene (http://www.ncbi.nlm.nih.gov/nuccore; accession number NG_023228.1) was used to design all PCR and ASPE primers for APOL1 genotyping and Sanger sequencing. The APOL1 genotyping and Sanger sequencing primer pairs used for amplification were PCR-F1/R1 and PCR-F2/R2, respectively. The six ASPE primers used to detect the WT, G1, or G2 alleles are illustrated with directional arrows and labeled as c.1072WT, c.1072A>G, c.1200WT, c.1200T>G, c.1212_1217WT, and c.1212_1217del6. Primer sequences are listed in Materials and Methods and Table 1. The Journal of Molecular Diagnostics 2016 18, 260-266DOI: (10.1016/j.jmoldx.2015.11.003) Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions