You are here: Home Clinical Services Clinical Pathology Elaine Lyon, Ph.D.
Document Actions

Elaine Lyon, Ph.D.

last modified 2013-08-09 10:35 — by u0101528

Associate Professor (Clinical) of Pathology

Scholarly Emphasis: Dr. Lyon’s research emphasis is developing, evaluating and adapting molecular detection technologies for clinical laboratory applications.
Elaine Lyon, Ph.D.

Elaine Lyon, Ph.D.

Contact Info

Email Address: lyone [at]

Office Phone Number: (801) 583-2787, x2420

Supporting Staff:   Anthony Adams  



  • Division Medical Director, Genetics, ARUP Laboratories
  • Co-Program Director, Clinical Genetics Fellowship Program
  • Program Director, Molecular Genetics Fellowship Program

About Elaine Lyon, Ph.D.

As a clinical molecular geneticist, Dr. Lyon combines clinical laboratory responsibilities with research and development.  Her research focus is on developing and evaluating technologies for detecting human mutations.  These include methods for mutation scanning and gene or exonic level deletion and duplications.  To determine whether several variants are on the same or different chromosome, she is developing molecular haplotyping methods.  In addition, her laboratory studies the significance of variants identified in the clinical laboratory.  They have adapted a statistical research model used in genetic linkage to determine the strength of genetic evidence that detected variants are deleterious or benign.   She is involved with evaluating and establishing locus specific databases that combine genetic variants with clinical symptoms.

Selected Publications

  • Voelkerding KV, Lyon E. (2010). Digital fetal aneuploidy diagnosis by next-generation sequencing. Clin Chem. 56(3):336-8.
  • Svensson A, Chou LS, Miller CE, Robles JA, Swensen JJ, Voelkerding KV, Mao R, Lyon E. (2010). 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. Genetic Testing and Molecular Biomarkers. 14(2):171-4.
  • Lyon E, Wittwer CT. (2009). LightCycler technology in molecular diagnostics. J Mol Diagn,11(2),93-101.
  • Amos Wilson J, Pratt VM, PHansalkar A, et al., Lyon E, Prior TW, Richards CS, et al.;the Fragile Xperts Working Group of the Association for Molecular Pathology Clinical Practice Committee. (1/2008) Consensus characterization of 16 FMR1 reference materials: A Consortium Study. J Mol Diagn, 10(1), 2-12.
  • Gedge F, McDonald J, Phansalkar A, Chou LS, Calderon F, Mao R, Lyon E, Bayrak-Toydemir P. (4/2007) Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations. J Mol Diagn, 9(2), 258-65.
  • Pont-Kingdon G, Chou L-S, Damjanovich K, Sumner K, Herrmann M, Erali M, Lyon E. (2/2007). Multiplex genotyping by melting analysis of loci-spanning probes: β-globin as an example. BioTechniques, 42(2), 193-197.
  • Melis R, Lyon E, McMillin GA. (2006). Determination of CYP2D6, CYP2C9 and CYP2C19 genotypes with Tag-It mutation detection assays. Expert Rev Mol Diagn, 6(6), 811-20.
  • Liew M, Nelson L, Margraf R, Mitchell S, Erali M, Mao R, Lyon E, Wittwer C. (2006). Genotyping of human platelet antigens 1 to 6 and 15 by high-resolution amplicon melting and conventional hybridization probes. J Mol Diagn, 8(1), 97-104.
  • Heaney DL, Flume P, Hamilton L, Lyon E, Wolff D. (February 2006). Detection of an Apparent Homozygous 3120G>A Cystic Fibrosis Mutation on a Routine Carrier Screen. J Mol Diagn, 8(1), 137-140.
  • Chou LS, Meadows C, Wittwer CT, Lyon E. (2005). Unlabeled oligonucleotide probes modified with locked nucleic acids for improved mismatch discrimination in genotyping by melting analysis. Biotechniques, 39(5), 644, 646, 648 passim.
  • Chen B, O'Donnell CD, Boone DJ, Amos JA, Lyon E, Payne DA, Pratt VM. (October 2005). Developing a sustainable process to provide quality control materials for genetic testing. Genetics In Medicine, 7(8), 534-549.
  • Pont-Kingdon G, Jama M, Miller C, Millson A, Lyon E. (2004). 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. J Mol Diagn, 6(3), 264-70.
  • All Publications: Click Here

Honors and Awards

  • 2005, Ramona Cannon Award - University Of Utah
  • 2005, Early Career Teaching Award - University Of Utah

Professional Education

  • 1978 - 1982 B.S. Brigham Young University (Microbiology)
  • 1986 - 1988 M.S. Brigham Young University (Microbiology)
  • 1988 - 1993 Ph.D. University of Alabama at Birmingham (Medical Genetics)
  • 1993 - 1997 FELLOW University of Utah, Department of Obstetrics and Gynecology, DNA Diagnostics Laboratory (Molecular Genetics)
  • 1994 - 1996 FELLOW University of Utah, Department of Pediatrics (Clinical Molecular Genetics)
  • 1997 - 1999 FELLOW University of Utah, Department of Pathology (Pathology)