Report of New Haplotype for ABCC2 Gene

Slides:



Advertisements
Similar presentations
Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.
Advertisements

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Measurement of Relative Copy Number of CDKN2A/ARF and CDKN2B in Bladder Cancer by Real-Time Quantitative PCR and Multiplex Ligation-Dependent Probe Amplification.
Nine Novel Germline Gene Variants in the RET Proto-Oncogene Identified in Twelve Unrelated Cases Syed A. Ahmed, Karen Snow-Bailey, W. Edward Highsmith,
Development of a Novel One-Tube Isothermal Reverse Transcription Thermophilic Helicase-Dependent Amplification Platform for Rapid RNA Detection James Goldmeyer,
Telomerase Activity and Expression of Telomerase RNA Component and Telomerase Catalytic Subunit Gene in Cervical Cancer Kenji Nakano, Elizabeth Watney,
CyclinD1/CyclinD3 Ratio by Real-Time PCR Improves Specificity for the Diagnosis of Mantle Cell Lymphoma Carol D. Jones, Katherine H. Darnell, Roger A.
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.
Enterococcus faecalis Induces Inflammatory Bowel Disease in Interleukin-10 Knockout Mice Edward Balish, Thomas Warner The American Journal of Pathology.
Duplex Ratio Tests as Diagnostic Biomarkers in Malignant Melanoma
Statistical Considerations for Immunohistochemistry Panel Development after Gene Expression Profiling of Human Cancers  Rebecca A. Betensky, Catherine.
In Silico Proficiency Testing for Clinical Next-Generation Sequencing
Laboratory Guidelines for Detection, Interpretation, and Reporting of Maternal Cell Contamination in Prenatal Analyses  Narasimhan Nagan, Nicole E. Faulkner,
The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients
A Quantitative Allele-Specific PCR Test for the BRAF V600E Mutation Using a Single Heterozygous Control Plasmid for Quantitation  Philippe Szankasi, N.
Performance of Common Analysis Methods for Detecting Low-Frequency Single Nucleotide Variants in Targeted Next-Generation Sequence Data  David H. Spencer,
Cystic Fibrosis The Journal of Molecular Diagnostics
Molecular Genetics of Pediatric Soft Tissue Tumors
Development and Validation of a Preanalytic Procedure for Performing the cobas HPV Test in SurePath Preservative Fluid  Mark D. Krevolin, David Hardy,
A DNA Real-Time Quantitative PCR Method Suitable for Routine Monitoring of Low Levels of Minimal Residual Disease in Chronic Myeloid Leukemia  Paul A.
Detection of CALR and MPL Mutations in Low Allelic Burden JAK2 V617F Essential Thrombocythemia  Fabrice Usseglio, Nathalie Beaufils, Anne Calleja, Sophie.
Simultaneous Genotyping of GSTT1 and GSTM1 Null Polymorphisms by Melting Curve Analysis in Presence of SYBR Green I  Fátima Marín, Nadia García, Xavier.
Joanna Wang, Chetan Bettegowda  The Journal of Molecular Diagnostics 
Increased Sensitivity of the Roche COBAS AMPLICOR HCV Test, Version 2
Maxim B. Freidin, Neesa Bhudia, Eric Lim, Andrew G
Comparison of High-Resolution Melting Analysis, TaqMan Allelic Discrimination Assay, and Sanger Sequencing for Clopidogrel Efficacy Genotyping in Routine.
A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal Plasma  Jessica M.E. van den Oever, Ivonne J.H.M. van.
Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis.
Development and Evaluation of a Pan-Sarcoma Fusion Gene Detection Assay Using the NanoString nCounter Platform  Kenneth T.E. Chang, Angela Goytain, Tracy.
Frequency and Spectrum of BRAF Mutations in a Retrospective, Single-Institution Study of 1112 Cases of Melanoma  Wesley O. Greaves, Shalini Verma, Keyur.
Cornelis J. J. Huijsmans, Jeroen Poodt, Paul H. M. Savelkoul, Mirjam H
A Lean Laboratory The Journal of Molecular Diagnostics
Challenges in Determining Genotypes for Pharmacogenetics in Allogeneic Hematopoietic Cell Transplant Recipients  Loralie J. Langman, Lior Nesher, Dimpy.
Rapid Real-Time PCR Assays for Detection of Klebsiella pneumoniae with the rmpA or magA Genes Associated with the Hypermucoviscosity Phenotype  Laurie.
Patrick R. Murray  The Journal of Molecular Diagnostics 
Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer  Daniel Trujillano, Maximilian.
William L. Gerald, M.D., Ph.D, 1954–2008
Genetics, Individuality, and Medicine in the 21st Century*
Multiplex Ligation-Dependent Probe Amplification Versus Multiprobe Fluorescence in Situ Hybridization To Detect Genomic Aberrations in Chronic Lymphocytic.
Development and Clinical Implementation of a Combination Deletion PCR and Multiplex Ligation-Dependent Probe Amplification Assay for Detecting Deletions.
Genotyping of Frequent BRCA1/2 SNPs with Unlabeled Probes
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
Victoria M. Pratt, Robin E. Everts, Praful Aggarwal, Brittany N
Duplex Ratio Tests as Diagnostic Biomarkers in Malignant Melanoma
The Molecular Pathology of Primary Immunodeficiencies
Modified Real-Time PCR for Detecting, Differentiating, and Quantifying Ureaplasma urealyticum and Ureaplasma parvum  Ellen Vancutsem, Oriane Soetens,
Detection of BRAF V600E Mutation in Colorectal Cancer
Multiplexed High Resolution Melting Assay for Versatile Sample Tracking in a Diagnostic and Research Setting  Céline Helsmoortel, R. Frank Kooy, Geert.
A Simple Method to Confirm and Size Deletion, Duplication, and Insertion Mutations Detected by Sequence Analysis  Lawrence N. Hjelm, Ephrem L.H. Chin,
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
Ayalew Tefferi, Pierre Noel, Curtis A. Hanson 
Validation of High-Resolution DNA Melting Analysis for Mutation Scanning of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene  Marie-Pierre.
Template-Directed Dye-Terminator Incorporation with Fluorescence Polarization Detection for Analysis of Single Nucleotide Polymorphisms Implicated in.
Multiplex PCR Detection of GSTM1, GSTT1, and GSTP1 Gene Variants
Inherited Cardiomyopathies
A Real-Time PCR Assay for the Simultaneous Detection of Functional N284I and L412F Polymorphisms in the Human Toll-Like Receptor 3 Gene  Robert A. Brown,
Detection and Quantification of BCR-ABL1 Fusion Transcripts by Droplet Digital PCR  Lawrence J. Jennings, David George, Juliann Czech, Min Yu, Loren Joseph 
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.
Karen Snow-Bailey, Ph.D., 1961–2006
Custom Design of a GeXP Multiplexed Assay Used to Assess Expression Profiles of Inflammatory Gene Targets in Normal Colon, Polyp, and Tumor Tissue  Janice.
Extra Alleles in FMR1 Triple-Primed PCR
Clinical Experience with the Cervista HPV HR Assay
Angiotensin I-Converting Enzyme
Monique A. Johnson, Marvin J. Yoshitomi, C. Sue Richards 
Identification of Cystic Fibrosis Variants by Polymerase Chain Reaction/Oligonucleotide Ligation Assay  Karen M. Schwartz, Lisa L. Pike-Buchanan, Kasinathan.
The History and Impact of Molecular Coding Changes on Coverage and Reimbursement of Molecular Diagnostic Tests  Susan J. Hsiao, Mahesh M. Mansukhani,
Presentation transcript:

Report of New Haplotype for ABCC2 Gene Victoria M. Pratt, Brittany N. Beyer, Daniel L. Koller, Todd C. Skaar, David A. Flockhart, Kenneth D. Levy, Gail H. Vance  The Journal of Molecular Diagnostics  Volume 17, Issue 2, Pages 201-205 (March 2015) DOI: 10.1016/j.jmoldx.2014.11.005 Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions

Figure 1 The father (square) is compound homozygous for c.3563T>A and c.4544G>A, whereas the mother (circle) and offspring (diamond) are compound heterozygous for both c.3563T>A and c.4544G>A. NVD, no variant detected. The Journal of Molecular Diagnostics 2015 17, 201-205DOI: (10.1016/j.jmoldx.2014.11.005) Copyright © 2015 American Society for Investigative Pathology and the Association for Molecular Pathology Terms and Conditions