E Lyon

Summary

Affiliation: ARUP Institute for Clinical and Experimental Pathology
Country: USA

Publications

  1. pmc Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period
    Perry G Ridge
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
    J Clin Bioinforma 3:3. 2013
  2. pmc Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting
    David K Crockett
    University of Utah School of Medicine, Biomedical Informatics, 26 South 2000 East, Salt Lake City, UT 84112, USA
    Genome Med 4:48. 2012
  3. doi request reprint Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy
    Elaine Lyon
    Department of Pathology, University of Utah School of Medicine, Molecular Genetics, ARUP Laboratories, Salt Lake City, Utah, USA
    Genet Med 14:990-1000. 2012
  4. pmc Molecular testing for adult type Alport syndrome
    Genevieve Pont-Kingdon
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
    BMC Nephrol 10:38. 2009
  5. ncbi request reprint Mutation detection using fluorescent hybridization probes and melting curve analysis
    E Lyon
    Department of Pathology, University of Utah, 50 North Medical Drive, Salt Lake City, UT 84132, USA
    Expert Rev Mol Diagn 1:92-101. 2001
  6. ncbi request reprint Hereditary hemochromatosis since discovery of the HFE gene
    E Lyon
    Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
    Clin Chem 47:1147-56. 2001
  7. doi request reprint Pharmacogenetic testing for warfarin sensitivity
    Elaine Lyon
    Department of Pathology, University of Utah, Salt Lake City, Utah, USA
    Clin Lab Med 28:525-37. 2008
  8. ncbi request reprint Current challenges in cystic fibrosis screening
    Elaine Lyon
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA
    Arch Pathol Lab Med 127:1133-9. 2003
  9. pmc A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis
    Elaine Lyon
    Pathology Department, University of Utah, Salt Lake City, Utah, USA
    J Mol Diagn 12:505-11. 2010
  10. pmc LightCycler technology in molecular diagnostics
    Elaine Lyon
    Department of Pathology, University of Utah, Salt Lake City, Utah, USA
    J Mol Diagn 11:93-101. 2009

Collaborators

Detail Information

Publications49

  1. pmc Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period
    Perry G Ridge
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
    J Clin Bioinforma 3:3. 2013
    ..abstract:..
  2. pmc Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting
    David K Crockett
    University of Utah School of Medicine, Biomedical Informatics, 26 South 2000 East, Salt Lake City, UT 84112, USA
    Genome Med 4:48. 2012
    ..Data visualization for clinical reporting is also discussed...
  3. doi request reprint Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy
    Elaine Lyon
    Department of Pathology, University of Utah School of Medicine, Molecular Genetics, ARUP Laboratories, Salt Lake City, Utah, USA
    Genet Med 14:990-1000. 2012
    ..It is designed to be a guideline for clinical laboratory professionals in performing tests and interpreting results with respect to CYP2D6 genetic variants...
  4. pmc Molecular testing for adult type Alport syndrome
    Genevieve Pont-Kingdon
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
    BMC Nephrol 10:38. 2009
    ..Few of the more than four hundred mutations described in COL4A5 are associated with adult type XLAS, but the families may be very large...
  5. ncbi request reprint Mutation detection using fluorescent hybridization probes and melting curve analysis
    E Lyon
    Department of Pathology, University of Utah, 50 North Medical Drive, Salt Lake City, UT 84132, USA
    Expert Rev Mol Diagn 1:92-101. 2001
    ..Types of mutations detected and reported applications are reviewed. Guidelines using melting curve analysis for the clinical laboratory are presented...
  6. ncbi request reprint Hereditary hemochromatosis since discovery of the HFE gene
    E Lyon
    Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
    Clin Chem 47:1147-56. 2001
    ..Mutations in the HFE protein compromise its function and produce disease symptoms. Two mutations, C282Y and H63D, have been linked to the majority of disease cases...
  7. doi request reprint Pharmacogenetic testing for warfarin sensitivity
    Elaine Lyon
    Department of Pathology, University of Utah, Salt Lake City, Utah, USA
    Clin Lab Med 28:525-37. 2008
    ..Finally, laboratory issues that apply to all methods, such as quality control and proficiency testing as well as service issues including turn-around-time requirements are discussed...
  8. ncbi request reprint Current challenges in cystic fibrosis screening
    Elaine Lyon
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA
    Arch Pathol Lab Med 127:1133-9. 2003
    ..This article gives an overview of the symptoms and mutations associated with classic and atypical cystic fibrosis (CF). Current testing methods for mutation detection in CF are discussed...
  9. pmc A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis
    Elaine Lyon
    Pathology Department, University of Utah, Salt Lake City, Utah, USA
    J Mol Diagn 12:505-11. 2010
    ....
  10. pmc LightCycler technology in molecular diagnostics
    Elaine Lyon
    Department of Pathology, University of Utah, Salt Lake City, Utah, USA
    J Mol Diagn 11:93-101. 2009
    ..High-resolution melting allows mutation scanning by detecting all heterozygous changes. This review describes the major advances throughout the last 15 years regarding LightCycler technology and its application in clinical laboratories...
  11. ncbi request reprint Distinguishing different DNA heterozygotes by high-resolution melting
    Robert Graham
    Department of Pathology, University of Utah School of Medicine, Salt Lake City 84132, USA
    Clin Chem 51:1295-8. 2005
  12. ncbi request reprint Direct molecular haplotyping of the IVS-8 poly(TG) and polyT repeat tracts in the cystic fibrosis gene by melting curve analysis of hybridization probes
    Alison Millson
    Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT 84108, USA
    Clin Chem 51:1619-23. 2005
    ..Molecular haplotyping is a developing technology with great potential for use in clinical diagnostics. We describe a haplotyping method that uses PCR combined with hybridization probes...
  13. pmc Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations
    Friederike Gedge
    Associated Regional and University Pathologists, Institute of Clinical and Experimental Pathology, Salt Lake City, Utah, USA
    J Mol Diagn 9:258-65. 2007
    ..We have confirmed the occurrence of de novo mutations in three patients. Our results also show that temperature gradient capillary electrophoresis is an efficient mutation screening method...
  14. ncbi request reprint Determination of CYP2D6, CYP2C9 and CYP2C19 genotypes with Tag-It mutation detection assays
    Roberta Melis
    ARUP Institute for Experimental and Clinical Pathology, 500 Chipeta Way, Salt Lake City, UT 84108, USA
    Expert Rev Mol Diagn 6:811-20. 2006
    ..The CYP2D6 assay was somewhat less robust and could be improved by associating the 2850C>T variant with a specific allele, as well as by discriminating the allele affected when gene duplication is detected...
  15. ncbi request reprint Multiplex genotyping by melting analysis of loci-spanning probes: beta-globin as an example
    Genevieve Pont-Kingdon
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA
    Biotechniques 42:193-7. 2007
    ..This demonstrates that, in addition to their haplotyping capabilities, LSProbes are able to genotype in a single step, loci 58 nucleotides apart...
  16. pmc Genotyping of human platelet antigens 1 to 6 and 15 by high-resolution amplicon melting and conventional hybridization probes
    Michael Liew
    ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108 1221, USA
    J Mol Diagn 8:97-104. 2006
    ..Advantages of high-resolution melting include rapid assay development and execution, no need for modified oligonucleotides, and similar accuracy in genotyping compared with other closed-tube melting methods...
  17. pmc Unlabeled oligonucleotides as internal temperature controls for genotyping by amplicon melting
    Michael T Seipp
    ARUP Institute for Clinical and Experimental, Pathology, Salt Lake City, UT 84108, USA
    J Mol Diagn 9:284-9. 2007
    ..In conclusion, internal temperature controls increase the accuracy of genotyping by high-resolution amplicon melting and should also improve results on lower resolution instruments...
  18. ncbi request reprint Unlabeled oligonucleotide probes modified with locked nucleic acids for improved mismatch discrimination in genotyping by melting analysis
    Lan Szu Chou
    ARUP Laboratories, Salt Lake City, UT 84108 1221, USA
    Biotechniques 39:644, 646, 648 passim. 2005
  19. doi request reprint Design and application of noncontinuously binding probes used for haplotyping and genotyping
    Genevieve Pont-Kingdon
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA
    Clin Chem 54:990-9. 2008
    ..In contrast, hybridization of noncontinuous probes to a template can form bulges. This report generates guidelines for the design of noncontinuous probes...
  20. ncbi request reprint Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons
    Michael Liew
    Institute for Clinical and Experimental Pathology, ARUP, Salt Lake City, UT, USA
    Clin Chem 50:1156-64. 2004
    ..We adapted this system to genotype single-nucleotide polymorphisms (SNPs) after rapid-cycle PCR (12 min) of small amplicons (</=50 bp)...
  21. doi request reprint Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model
    Pinar Bayrak-Toydemir
    Department of Pathology, University of Utah, Salt Lake City, USA
    Exp Mol Pathol 85:45-9. 2008
    ..Other parameters such as amino acid severity predictions, ortholog and paralog comparisons and functional assays can be included in the analysis to increase the evidence of causality...
  22. doi request reprint The Alport syndrome COL4A5 variant database
    David K Crockett
    ARUP Laboratories, Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA
    Hum Mutat 31:E1652-7. 2010
    ..This free online scientific resource was developed with the clinical laboratory in mind to serve as a reference and repository for COL4A5 variants...
  23. ncbi request reprint Flow cytometric assay for genotyping cytochrome p450 2C9 and 2C19: comparison with a microelectronic DNA array
    Jerry W Pickering
    Associated Regional and University Pathologists, Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA
    Am J Pharmacogenomics 4:199-207. 2004
    ..To correlate the dose required for therapeutic drug efficacy with genotype, accurate and reliable methods for detecting single nucleotide polymorphisms (SNPs) of CYP2C9 and CYP2C19 are required...
  24. ncbi request reprint Rapid detection of aneuploidy (trisomy 21) by allele quantification combined with melting curves analysis of single-nucleotide polymorphism loci
    Genevieve Pont-Kingdon
    ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108, USA
    Clin Chem 49:1087-94. 2003
    ..We present here a molecular alternative for the detection of aneuploidies and, more specifically, trisomy 21...
  25. pmc Long-range (17.7 kb) allele-specific polymerase chain reaction method for direct haplotyping of R117H and IVS-8 mutations of the cystic fibrosis transmembrane regulator gene
    Genevieve Pont-Kingdon
    Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108, USA
    J Mol Diagn 6:264-70. 2004
    ..The molecular method presented here bypasses the need to perform family studies to establish haplotypes. We propose use of this assay as a reflex clinical test for R117H- 5T-positive samples...
  26. pmc Complete gene scanning by temperature gradient capillary electrophoresis using the cystic fibrosis transmembrane conductance regulator gene as a model
    Lan Szu Chou
    Institute for Clinical and Experimental Pathology, Associated Regional University Pathologists Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108 1221, USA
    J Mol Diagn 7:111-20. 2005
    ..TGCE automation and high-throughput capability can be implemented in a clinical environment for mutation scanning with high sensitivity, thus reducing sequencing cost and effort...
  27. pmc Direct molecular haplotyping by melting curve analysis of hybridization probes: beta 2-adrenergic receptor haplotypes as an example
    Genevieve Pont-Kingdon
    Institute for Clinical and Experimental Pathology, ARUP Laboratories 500 Chipeta Way, Salt Lake City, UT 84108, USA
    Nucleic Acids Res 33:e89. 2005
    ..This approach provides a tool for molecular haplotyping that should prove useful in clinical molecular genetics diagnostics and pharmacogenetic research where methods for direct haplotyping are needed...
  28. ncbi request reprint Evaluation of electronic microarrays for genotyping factor V, factor II, and MTHFR
    Maria Erali
    ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108, USA
    Clin Chem 49:732-9. 2003
    ..We evaluated a method using electronically addressable microarrays for the detection of mutations in these genes that have been associated with vascular disease...
  29. ncbi request reprint Quantification of HER2/neu gene amplification by competitive pcr using fluorescent melting curve analysis
    E Lyon
    Department of Pathology, School of Medicine, University of Utah, Salt Lake 84132, USA
    Clin Chem 47:844-51. 2001
    ..We designed a quantitative PCR system utilizing fluorescent hybridization probes and a competitor that differed from the HER2/neu sequence by a single base change...
  30. pmc Confirmation of single exon deletions in MLH1 and MSH2 using quantitative polymerase chain reaction
    Cecily P Vaughn
    ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108, USA
    J Mol Diagn 10:355-60. 2008
    ..Single exon deletions in MLH1 and MSH2 can be verified using quantitative PCR. Assays using this method are simple to design and easy to perform, making them ideal for confirmatory testing...
  31. ncbi request reprint Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays
    Siby Sebastian
    Department of Pathology, Molecular Diagnostics Laboratory, Duke University Medical Center, Durham, NC, USA
    Clin Chem 50:251-4. 2004
  32. doi request reprint Detection of large rearrangements in the cystic fibrosis transmembrane conductance regulator gene by multiplex ligation-dependent probe amplification assay when sequencing fails to detect two disease-causing mutations
    Annika M Svensson
    Department of Pathology, University of Utah, Salt Lake City, Utah, USA
    Genet Test Mol Biomarkers 14:171-4. 2010
    ..This study was undertaken to determine whether testing for large gene rearrangements could improve the mutation detection rate...
  33. ncbi request reprint A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model
    Lan Szu Chou
    Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT 84108 1221, USA
    Am J Clin Pathol 124:330-8. 2005
    ..HRMA had better sensitivity and specificity than dHPLC with the added advantage that some homozygous sequence alterations could be identified. HRMA has great potential for rapid, closed-tube mutation scanning...
  34. pmc Lack of association between beta 2-adrenergic receptor polymorphisms and juvenile idiopathic arthritis
    G Pont-Kingdon
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
    Scand J Rheumatol 38:91-5. 2009
    ..Associations between variants in the gene encoding the beta 2-adrenergic receptor (ADRB2) and autoimmune disorders such as rheumatoid arthritis (RA) have been demonstrated. We aimed to investigate ADRB2 variants for association with JIA...
  35. pmc Application of haplotype pair analysis for the identification of hemizygous loci
    B C Hendrickson
    Myriad Genetics Inc, Salt Lake City, UT 84108, USA
    J Med Genet 40:346-7. 2003
    ..In this approach, unphased SNP genotypes are compared to pairs of canonical haplotypes to identify potentially hemizygous regions. This method was successfully applied to identify five deletions in the 3' region of BRCA1...
  36. ncbi request reprint Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing
    Jeffrey R Botkin
    Department of Pediatrics, University of Utah, Salt Lake City, Utah 84113, USA
    Am J Med Genet A 118:201-9. 2003
    ..Oophorectomy was obtained by a large proportion of carrier women in contrast to mastectomy which was not utilized within the first 2 years following testing...
  37. pmc Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene
    Mohamed Jama
    ARUP Institute for Clinical and Experimental Pathology, 500 Chipeta Way, Salt Lake City, UT 84108, USA
    J Mol Diagn 9:618-23. 2007
    ..We also report a nontarget novel mutation, p.L192X, and its profile using single nucleotide extension. This assay can complement the enzyme activity assay and identify familial mutations for testing additional family members...
  38. pmc Comparison of two quantitative polymerase chain reaction methods for detecting HER2/neu amplification
    Alison Millson
    Associated Regional and University Pathologists Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA
    J Mol Diagn 5:184-90. 2003
    ..Real-time quantification and microdissection is useful clinically for HER2/neu quantification. Its ease of use and broad dynamic range allows screening for amplification of HER2/neu...
  39. doi request reprint Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes
    Cecily P Vaughn
    ARUP Institute for Clinical and Experimental Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84108, USA
    Hum Mutat 31:588-93. 2010
    ..Our data also support the use of IHC screening to direct germline testing of PMS2...
  40. doi request reprint Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell trait
    Jeffrey J Swensen
    Division of Pathology, University of Utah, Salt Lake City, UT, USA
    Blood 116:2822-5. 2010
    ..This report exemplifies non-Mendelian genetics wherein a patient who inherited sickle cell trait has mild SCD resulting from postzygotic mitotic recombination leading to UPD...
  41. ncbi request reprint Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis
    Randall W Burt
    Department of Medicine, University of Utah, Salt Lake City, USA
    Gastroenterology 127:444-51. 2004
    ..An attenuated form of familial adenomatous polyposis has been described, but the phenotype remains poorly understood...
  42. ncbi request reprint Automated DNA extraction for real-time PCR
    Sheri M Williams
    Clin Chem 48:1629-30. 2002
  43. doi request reprint Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin
    David A Flockhart
    Indiana University School of Medicine, Indianapolis, Indiana, USA
    Genet Med 10:139-50. 2008
    ....
  44. ncbi request reprint Discovering rare variants by use of melting temperature shifts seen in melting curve analysis
    Elaine Lyon
    Clin Chem 51:1331-2. 2005
  45. pmc Design, development, validation, and use of synthetic nucleic acid controls for diagnostic purposes and application to cystic fibrosis testing
    Todd M Christensen
    Molecular Diagnostics Laboratory, Sacred Heart Medical Center Spokane, Spokane, WA 99204, USA
    J Mol Diagn 9:315-9. 2007
    ..It has not escaped our notice that the design of these molecules makes possible the production of similar controls for virtually any mutation or sequence of interest...
  46. pmc Detection of an apparent homozygous 3120G>A cystic fibrosis mutation on a routine carrier screen
    Denise LaMarche Heaney
    Department of Pathology and Laboratory Medicine, Medical University of South Carolina, 165 Ashley Ave, Suite 309, Charleston, SC 29425, USA
    J Mol Diagn 8:137-40. 2006
    ....
  47. pmc Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings
    Ira M Lubin
    Centers for Disease Control and Prevention, 1600 Clifton Rd NE, MS G23, Atlanta, Georgia 30333, USA
    J Mol Diagn 10:459-68. 2008
    ..These findings are reviewed in light of what efforts should be taken to improve the quality of test-ordering and result-reporting practices...
  48. ncbi request reprint Developing a sustainable process to provide quality control materials for genetic testing
    Bin Chen
    Quality Control Materials for Genetic Testing Group, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA
    Genet Med 7:534-49. 2005
    ....
  49. pmc Consensus characterization of 16 FMR1 reference materials: a consortium study
    Jean Amos Wilson
    Sequenom, San Diego, California, USA
    J Mol Diagn 10:2-12. 2008
    ..DNA purified from these cell lines is available to the genetics community through the Coriell Cell Repositories. The public availability of these reference materials should help support accurate clinical fragile X syndrome testing...