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

Leveraging gnomAD sub-population frequency data in variant interpretation

Quest Diagnostics Authors: Hiller, E
Authors: Hiller E, Maston G, Bogenschutz J, Farinas A, Lapierre J, Medeiros K, Nakles-Taylor R, Raval F, Nery C, Karbassi I, Lacbawan F
Event: Human Genetic Variation and Disease Conference 2018. Biddeford, ME, June 10 - 15, 2018

Specialties: Genetics

Detection and Confirmation of Two Jacobsen Syndrome Microdeletions by Prenatal Cell-free DNA Screening

Quest Diagnostics Authors: Blazejewski, L, Lacbawan, F, Owen, R
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

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

Quest Diagnostics Authors: 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, 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, FM, 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: 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.

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

Specialties: Genetics