Conference Presentations by Medical Specialty - Genetics

Below is a listing of recent posters and presentations by Quest Diagnostics medical and scientific staff.

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Clinical laboratory stewardship at a large commercial laboratory: Flexing genetic assistant skills

Quest Diagnostics Authors: Franklin, CR
Authors: Guy C, Wilson K, Franklin C
Event: PLUGS Summit 2018. Seattle, WA, June 13th - 15th, 2018

Specialties: Genetics, Laboratory

The Frequency and Spectrum of BRCA1 and BRCA2 Variants in 785 Puerto Rican Individuals Tested by a Diagnostic Reference Laboratory

Quest Diagnostics Authors: Karbassi, I, Lacbawan, F
Authors: Nakles-Taylor R, Chen R, Hiller E, Nery C, Karbassi I, Lacbawan F
Event: ACMG 2018: Annual Clinical Genetics Meeting. Charlotte, NC, April 10-14, 2018

Specialties: Genetics, Oncology

Demonstration that Absence of Co-occurrences with Known Pathogenic Variants Can Be Used as Evidence of Pathogenicity for an Uncertain Variant

Quest Diagnostics Authors: Higgins, JJ, Karbassi, I, Lacbawan, F
Authors: Maston GA, Fischer H, LaPierre J, Love A, Forum Raval F., Elzinga CD, DiVincenzo C, Karbassi I, Dev Batish S, Wang Z, Higgins JJ, and Lacbawan F
Event: ACMG 2018: Annual Clinical Genetics Meeting. Charlotte, NC, April 10-14, 2018

Specialties: Genetics

Diagnostic Confirmation of 2 Jacobsen Syndrome Microdeletions by Prenatal Cell Free DNA Screening

Quest Diagnostics Authors: Blazejewski, L, Zhang, K
Authors: Epstein BK, Blazejewski LM, Owen R, Anderson BP, Zhang K, Chen N, Ilagan BJ, Lacbawan FL
Event: ACMG 2018: Annual Clinical Genetics Meeting. Charlotte, NC, April 10-14, 2018

Specialties: Genetics, Women's Health/OB/GYN

Cost-effectiveness of genetic testing with a hereditary cancer panel in women at risk of hereditary breast cancer

Quest Diagnostics Authors: Bare, L, Devlin, J, Li, Y
Authors: Li Y, Arellano AR, Bare LA, Devlin JJ
Event: SABCS 2017: San Antonio Breast Cancer Symposium. San Antonio, Texas, December 5-9, 2017

Specialties: Genetics, Oncology, Women's Health/OB/GYN

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Genetic analysis using Next Generation Sequencing in 46 pediatric thyroid cancer subjects: Genotype-Phenotype Correlations

Quest Diagnostics Authors: Hantash, F, Reitz, R
Authors: Kadakia S, Jiang W, Nikita M, Cheng S, Reitz RE, Qu K, Li HX, Newbury RO, Hantash FM, Newfield R
Event: ATA 2017: 87th Annual Meeting of the American Thyroid Association. Victoria, BC, Canada, October 18-22, 2017

Specialties: Genetics, Oncology

A 34-gene, NGS assay for common hereditary cancers reveals a high percentage of variants of unknown significance in the POLD1 and POLE genes.

Quest Diagnostics Authors: Karbassi, I, Lacbawan, F
Authors: Hodko D., Nakles-Taylor R., Chen R., Nery C., Karbassi I., Lacbawan F.
Event: ASHG 2017: The American Society of Human Genetics Annual Meeting . Orlando, Florida, October17-21, 2017

Specialties: Genetics, Laboratory, Oncology

Classical Cytogenetics: It's still relevant.

Authors: Debra Boles
Event: FGT 2017: Foundation of Genetic Technologists 2017 Southeastern Regional Genetics Meeting. Chantilly, VA, September 17, 2017

Specialties: Genetics

Costing the Diagnostic Odyssey: The-NIH Undiagnosed Disease Program Five-Year Experience

Authors: Lacbawan F, Toro C, Landis D, Godfrey R, Wahl C, Nehrebecky M, Groden C, Regier D, Macnamara E, Rowland C , Shiffman D, Garcia V, Adams D, Gahl W and Tifft C
Event: ACMG 2017: Annual Clinical Genetics Meeting 2017 . Phoenix, AZ, March 21 - 25, 2017

Specialties: Genetics

Genetic Risk Score is Associated with Atrial Fibrillation and Stroke in the Malmo Prevention Project

Quest Diagnostics Authors: Bare, L, Devlin, J
Authors: Shiffman D, Louie JZ, Bare LA, Devlin JJ, Melander O
Event: AHA 2016: American Heart Association, Scientific Sessions . New Orleans, LA, USA, November 12-16, 2016

Specialties: Cardiology, Genetics

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