Association for Molecular Pathology (AMP)

November 16–18, 2017
Booth #: 
700

One location, collaborative experts, vital results.

Visit our experts to learn how ARUP is ensuring our clients have what their patients need.

Visit us in booth #700 and enter to win a new waterproof Kindle Oasis with a leather cover.

Test Highlights

Genetics

ARUP has two new tests for Autism and Intellectual Disability. These tests were developed to assist our clients in the ordering process by creating more intuitive panels.

The incidence of autism is 1 in 68 births in the United States. The occurrence is about 4.5 times more common in boys than in girls. About 1 in 6 children in the US had a developmental disorder in 2006–08, ranging from mild disabilities, such as speech and language impairments, to serious developmental delay.

  • Autism and Intellectual Disability Metabolic Panel (2014312)
  • Autism and Intellectual Disability Comprehensive Panel (2014314)

Immunology

A critical breakthrough in treatment for Hepatitis C Virus (HCV) was the introduction of direct-acting antivirals (DAAs) in 2011. Several classes of these drugs are now available for use either with interferon or, more recently, in interferon-free formulations. One of the most effective classes is the NS5A inhibitors. Approximately 10–15 percent of HCV genotype 1-infected patients without prior exposure to NS5A inhibitors are found to have resistanceassociated variants. To determine resistance, order one of the following before initiating treatment with NS5A inhibitors for patients with genotype 1a or 1b.

  • Hepatitis C Virus (HCV) NS5A Drug Resistance by Sequencing (2014139)
  • Hepatitis C Virus (HCV) Genotype with Reflex to HCV NS5A Drug Resistance by Sequencing (2014598)

Infectious Disease

ARUP offers multiplex molecular tests that allow for several of the most common gastrointestinal pathogens to be tested at once. These provide improved analytical specificity and sensitivity versus most classical methodologies.

  • Clostridium difficile Toxin B Gene (tcdB) by PCR (2002838)
  • Gastrointestinal Parasite and Microsporidia by PCR (2011660)
  • Gastrointestinal Bacterial Panel by PCR (2012678)
  • Gastrointestinal Parasite Panel by PCR (2011150)
  • Gastrointestinal Viral Panel by PCR (2013577)
  • Microsporidia by PCR (2011626)
  • Norovirus Group 1 and 2 Detection by RT-PCR (0051281)

Molecular Oncology

ctDNA provides a rapid, minimally invasive blood testing alternative to traditional biopsy or resection tissue analysis for the targeted treatment of EGFR T790M mutations in non-small cell lung adenocarcinoma and BRAF mutations in melanoma.

  • EGFR T790M Mutation Detection in Circulating Tumor DNA by Digital Droplet PCR (201286)
  • BRAF V600E Mutation Detection in Circulating Cell-Free DNA by Digital Droplet PCR (2013921)

Epi proColon is the first and only FDA-approved blood test for colorectal cancer screening that detects methylated Septin 9 DNA by PCR.


This panel assesses for single-gene mutations, including substitutions, as well as insertions and deletions, that may have diagnostic, prognostic, and/or therapeutic significance in AML, MDS, MPN, and MDS/MPN overlap disorders; also available with copy number analysis by microarray.

  • Myeloid Malignancies Mutation Panel by NGS (2011117)

Posters and Presentations

Sumner KS, Gligorich KM, Sanders J, Hall AA, Raney JA, Furtado LV, Best DH, Ji Y—Poster
Sumner KS, Wu J, Hutchinson DT, Gligorich KM, Brooks M, Sanders J, Hall AA, Raney JA, Bolia A, Gee EP, Furtado LV, Best DH, Ji Y. A cost-effective analysis of somatic mosaic PIK3CA mutations in PIK3CA-related segmental overgrowth.

Toydemir R—Poster
Hilton B, Palumbos J, Viskochil D, Toydemir R. Chromosome anomalies involving the APC gene lead to an increased risk for FAP and developmental delays.

Schumacher J, Margraf R, Bastien RRL, Raney JA, Hall AA, Szankasi P, Furtado LV, Gligorich K, Kelley TW—Poster
Bolia A, Monroe M, Kennedy B, Boehme K, Sunderland R, Weeks J, O'Fallon B, Kellogg A, Yang L, Tirpankar N, Simmon KE, Durtschi J, Brulotte B, Krueger C, Nix D, Schumacher J, Margraf R, Findler P, Bastien RRL, Raney JA, Hall AA, Frizzell K, Sorrells S, Szankasi P, Furtado LV, Gligorich K, Kelley TW, Gee EPS. Cloud-based somatic pipeline development and validation for clinical somatic variant detection, including large indels, from targeted panels.

Hall AA, Raney JA, Nelson J, Margraf RL, Gligorich KM, Matynia AP—Poster
Hall AA, Raney JA, Nelson J, Margraf RL, Gligorich KM, Matynia AP. Detection of MLH1 promoter methylation by MassARRAY MALDI-TOF.

Schumacher JA, Szankasi P, Kelley TW, Patel JL—Poster
Schumacher JA, Szankasi P, Kelley TW, Patel JL. Detection of rare variant NPM1 transcripts using an allele specific real-time qPCR assay targeting mutation types A, B, and D.

Tardif KD, Hanson KE—Poster
Tardif KD, Hanson KE. Development of panFungal next generation sequencing assay.

Akay Tayfun G, Wooderchak-Donahue W, Farrell A, Velinder M, McDonald J, Johnson P, Marth G, Bayrak-Toydemir P—PosterVelinder M, McDonald J, Johnson P, Marth G, Bayrak-Toydemir P—Poster
Akay Tayfun G, Wooderchak-Donahue W, Farrell A, Velinder M, McDonald J, Johnson P, Marth G, Bayrak-Toydemir P. Genome sequencing reveals variants in non-coding regions cause hereditary hemorrhagic Velinder M, McDonald J, Johnson P, Marth G, Bayrak-Toydemir P. Genome sequencing reveals variants in non-coding regions cause hereditary hemorrhagic telangiectasia.

Couturier BA, Mallory M, Barker AP, Fisher MA—Poster & Presentation
Simmon KE, Couturier BA, Mallory M, Barker AP, Fisher MA. Homopolymer compression improves reference-free, Kmer based whole genome strain comparison for IonTorrent data.

Hong B, Andersen E, Lamb A, Xu X, Salama M, Toydemir RM—Poster
Paulraj P, Hilton B, Herriges J, Serrano M, Hong B, Andersen E, Lamb A, Xu X, Salama M, Toydemir RM. Multi-year review of cytogenetic abnormalities in patients with multiple myeloma from a single institution and a proposed testing algorithm.

Rindler PM, Bastien RRL, Margraf RL, Raney JA, Hall AA, Hellwig S, Deftereos G, Grossmann AH, Matynia AP, Bernard P, Bronner M, Furtado LV, Gligorich KM—Poster
Rindler PM, Bolia A, Bastien RRL, Margraf RL, Raney JA, Hall AA, Hellwig S, Deftereos G, Grossmann AH, Matynia AP, Bernard P, Bronner M, Kennedy B, Furtado LV, Gee EP, Gligorich KM. Use of synthetic mutation standards to bolster validation of DNA based NGS panels for detection of translocations and large INDELS.

Margraf R, Rindler P, Bastien R, Raney J, Hall A, Furtado L, Gligorich K—Poster
Kellogg A, Bolia A, Simmon K, Margraf R, Rindler P, Bastien R, Raney J, Hall A, Furtado L, Kennedy B, Gligorich K, Gee E. Vetting targeted capture probe design with a computational strategy combining KmerSniper and BLAT.

Deftereos G, Furtado LV, Matynia A, Bronner M—Poster
Deftereos G, Carter V, Sandoval A, Furtado LV, Matynia A, Bronner M. Successful lung cancer EGFR sequencing from DNA extracted from TTF-1 immunohistochemistry slides: a new means to extend insufficient tissue.

Szankasi P, Paxton C, Rindler P, Schumacher J, Xu X, Kelley TW—Poster
Szankasi P, Paxton C, Shen W, Rindler P, O'Fallon B, Schumacher J, Xu X, Kelley TW. Detection of fusion transcripts in hematologic malignancies by RNA-Seq.

Raney JA, Bastien RRL, Dames S, Rindler P, Hall AA, Wooderchak-Donahue W, Close D, Gligorich K, Furtado LV—Poster
Raney JA, Bastien RRL, Dames S, Bolia A, Rindler P, Hall AA, Wooderchak-Donahue W, O’Fallon B, Durtschi J, Close D, Sunderland R, Kennedy B, Gee EPS, Gligorich K, Furtado LV. Automating low input library preparation for next generation sequencing.

http://amp17.amp.org/
AMP
Calvin L. Rampton Salt Palace Convention Center
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UT