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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Frequency of FTLD Mutations in a Community Sample versus Specialty Clinic

Quest Diagnostics Authors: Higgins, JJ
Authors: Rabinowitz N, Yokoyama J, Karydas A, Coppola G, Bonham L, Fong J, Rankin K, Miller B, Bright A, Karbassi I, Meservey M, Liaquat K, Gallen M, Hoffman C, Krasner M, Dodge W, Higgins JJ
Event: AAN 2016: 68th Annual Meeting of the American Academy of Neurology. Vancouver, Canada, April 15, 2016 - April 21, 2016

Specialties: Genetics, Neurology

Frequency of Total Uniparental Isodisomy and Triploidy in a Series of Oligo-SNP Array Analyses of Products of Conception (POC) and Amniocytes.

Quest Diagnostics Authors: Owen, R
Authors: Wang BT, Owen R, Boyar F, Mahon L, Wang JC, El Naggar M, Kelly J, Hemmat M, Anguiano A
Event: ISPD 2016: 20th Annual International Conference on Prenatal Diagnosis and Therapy. Berlin, Germany, July 10, 2016 - July 13, 2016

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

Do metabolic risk factors mediate the genetic risk for coronary heart disease?

Quest Diagnostics Authors: Shiffman, D
Authors: Fritz J , Shiffman D, Melander O, Tada H, Ulmer H
Event: ESC 2016: 38th Annual Congress of the European Society of Cardiology. Rome, Italy, August 27, 2016 - August 31, 2016

Specialties: Cardiology, General Health and Wellness, Genetics

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Detection and Direct Quantitation of Guanidinoacetate, Creatine and Creatinine in Human Urine by LC-MS/MS and Electrospray Ionization

Quest Diagnostics Authors: Clarke, NJ
Authors: Lynn TC, Salazar D, Clarke NJ
Event: MSACL-US 2016: 8th Annual Conference and Exhibits of the Association for Mass Spectrometry: Applications to the Clinical Laboratory. Palm Springs, CA, February 21, 2016 - February 25, 2016

Specialties: Genetics, Neurology, Pathology, Laboratory Medicine, Pediatrics, Women's Health/OB/GYN

Inter-Laboratory Comparison of Assays to Measure SMN2 Copy Number in Dried Blood Spots from Patients with Spinal Muscular Atrophy

Quest Diagnostics Authors: Evans, M, Scally, M
Authors: Yazdanpanah GK, Liu M, Chiang S, Evans M, Scally M, Carmillo P, Phan H, Lee FK, Carulli J, Hwu W-L, Chien Y-H, Sun C, Staropoli JF, Vogt RF
Event: NBSGTS 2016: Association of Public Health Laboratories-2016 Newborn Screening and Genetic Testing Symposium. Albuquerque, NM, February 29, 2016 - March 3, 2016

Specialties: Family medicine practitioners, Genetics, Neurology, Pathology, Laboratory Medicine, Pediatrics

Incidence and types of coexisting hematologic disorders indicated by molecular cytogenetic studies in a series of consecutive 136,585 patients; report of 31 cases and review of the literature

Quest Diagnostics Authors: Boyar, F
Authors: Xu J, Boyar FZ, Bansal I, Christacos NC, Sanidad CM, Mowrey PN
Event: ACMG 2016: 23rd Annual Clinical Genetics Meeting of the American College of Medical Genetics. Tampa, FL, Tuesday, March 08, 2016 - March 12, 2016

Specialties: Genetics, Hematology/Hemostasis/Thrombosis, Oncology

15 Years’ Experience: Diagnosis of Organic Acidemias at Quest Diagnostics Biochemical Genetics Laboratory

Quest Diagnostics Authors: Strom, C, Zhang, K
Authors: Sharma R, Salazar DZ, Bonilla-Guerrero R, Davoodi-Semiromi A, Lobo RM, Lee JE Neidich JA, Zhang K, Strom CM
Event: SSIEM 2016: Society for the Study of Inborn Errors of Metabolism Annual Symposium . Rome, Italy, September 6-9, 2016

Specialties: Endocrinology, Diabetes & Metabolism, Genetics

A case report of a complex supernumerary marker chromosome in prenatal testing by chromosomes and SNP array representing constitutional chromoanagenesis.

Quest Diagnostics Authors: Boyar, F, Haddadin, M, Mahon, L, Owen, R
Authors: Haddadin, Mary H, Mahon, Loretta W, Ray, James H, Shirong, Wang, Owen, Renius X, Boyar, Fatih Z, Strom, Charles
Event: ACC 2016: 44th Biennial American Cytogenetics Conference. Sunriver, OR, June 27, 2016 - June 30, 2016

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

Inter-Laboratory Comparison of Assays to Measure SMN1 and SMN2 Copy Number in Dried Blood Spots and Support Pilot Newborn Screening for SM

Quest Diagnostics Authors: Zhang, K
Authors: Golriz K. Yazdanpanah, Mei Liu, Shu-Chuan Chiang, Matthew Evans, Michael Scally, Paul Carmillo, Han Phan, Francis K. Lee, John Carulli, Wuh-Liang Hwu, Yin-Hsiu Chien, Chao Sun, John F. Staropoli, Robert F. Vogt
Event: CuraSMA 2016 (Spinal Muscular Atrophy). Disneyland, CA, June 16, 2016 - June 18, 2016

Specialties: Genetics, Neurology, Pediatrics

Genetic Testing of a 7-Gene Panel Could Cost-Effectively Aid in Risk Reduction for Women at High Risk of Hereditary Breast Cancer

Quest Diagnostics Authors: Bare, L, Bender, R, Devlin, J, Li, Y, Strom, C
Authors: Yonghong Li, Lance A Bare, Richard A Bender, Charles M Strom James Devlin
Event: NCCN 2016: 21st Annual Conference of the National Comprehensive Cancer Network. Hollywood, FL, March 31, 2016 - April 1, 2016

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