Clinical Education Center

Practical tool for coverage metrics standardization for disparate variant call outputs via NGS read depth statistics re-computation

Quest Diagnostics Authors: Bhattacharya, A, Elzinga, C, Gerasimova, A, Grupe, A, Lacbawan, F, Nguyen, Q, Rosenthal, SH
Authors: Gerasimova A, Bhattacharya A, Rosenthal S, Nguyen Q, Kazmierkiewicz K, Sunkara S, Elzinga C, Grupe A, Moler E, Lacbawan F

Specialties: Genetics, Oncology, Pediatrics

Assessment of urinary buprenorphine, norbuprenorphine and naloxone concentrations in patients in prescription drug monitoring programs

Quest Diagnostics Authors: Jenkins, AJ
Authors: Solano R, Jenkins AJ

Specialties: Toxicology/Pain Management

Urinary hydrocodone and metabolite concentrations in patients in prescription drug monitoring programs

Quest Diagnostics Authors: Chen, L, Jenkins, AJ
Authors: Chen L, Jenkins AJ

Specialties: Toxicology/Pain Management

STI Testing Beyond Chlamydia trachomatis & Neisseria gonorrhea: Mycoplasma genitalium & Trichomonas vaginalis Trends Data From a US Commercial Laboratory

Quest Diagnostics Authors: Kagan, R, Marlowe, M

Specialties: Infectious Disease

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The diagnosis and treatment of ethylene glycol poisoning

Quest Diagnostics Authors: Boyar, F, Jenkins, AJ
Authors: Jenkins A, Amato R, Xiong Y

Specialties: Toxicology/Pain Management

The Crisis Within the Crisis: Fentanyl Abuse and COVID-19

Quest Diagnostics Authors: Gudin, J, Kaufman, HW, Niles, JK, Radcliff , J
Authors: Gudin J, Niles J, Radcliff J, Kaufman H

Specialties: Infectious Disease, Toxicology/Pain Management

Individuals with metabolic syndrome and unrecognized sleep apnea can be identified by an employer-sponsored healthcare program and at-home sleep study

Quest Diagnostics Authors: Arellano, AR, Bare, L, Birse, CE, Devlin, J, Fragala, M, Iakoubova, OA, Tong, CH
Authors: Iakoubova OA, Tong C, Arellano A, Bare LA, Fragala MS, Devlin JJ, Birse CE

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

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Comparison of variants identified by next-generation sequencing panels: A 48-gene panel for myeloid neoplasms and a 35-gene panel for hematologic neoplasms

Quest Diagnostics Authors: Catanese, JJ, Chong, HK, Elzinga, C, Grupe, A, Lacbawan, F, Ma, C, Owen, R, Racke, FK, Rosenthal, SH
Authors: Rosenthal SH, Chong H, Ma C, Sugganth D, Owen R, Catanese J, Elzinga C, Grupe A, Freitas T, Graham J, Racke F, Lacbawan F

Specialties: Oncology

Highly specific copy number variant-flagging algorithm using next-generation sequencing in cancer-predisposition genes

Quest Diagnostics Authors: Buller-Burckle, A, Lacbawan, F, Rosenthal, SH, Smolgovsky, A
Authors: Rosenthal SH, Zhang K, Liu Y, Owen R, Smolgovsky A, Buller-Burckle A, Lacbawan F

Specialties: Oncology

Mycoplasma genitalium Trends among Men and Women in a National Reference Laboratory Database

Quest Diagnostics Authors: Kagan, R, Marlowe, M
Authors: Marlowe E, Kagan R

Specialties: Infectious Disease, Women's Health/OB/GYN

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Two-Year Antibiogram Data for Helicobacter pylori from a National Reference Laboratory

Quest Diagnostics Authors: Azad, K, Kagan, R, Marlowe, M, Schwab, D
Authors: Azad KN, Kagan RM, Huang X, Marlowe EM, Schwab DA

Specialties: Infectious Disease

HIV-1 Integrase Next Generation Sequencing of Proviral DNA Compared to Plasma RNA

Quest Diagnostics Authors: Baumann, R, Baxter, JD, Kagan, R
Authors: Kagan RM, Baumann RE, Baxter J

Candida Auris: Antifungal Susceptibility Results in Clinical Isolate

Quest Diagnostics Authors: Bao, J, Jones, RS, Master, R, Shier, K
Authors: Bao JR, Shier KL, Master RN, Clark RB, Moore EC, Jones RS

Specialties: Infectious Disease

T-SPOT®.TB Assay Using Extended Stored Blood Samples and Alternative Anticoagulant; A Validation Study

Quest Diagnostics Authors: Bao, J, Clark, R, Jones, RS, Mason, PW, Shier, K
Authors: Bao JR, Mathew, FP, Jones RS, Mason PW, Hutchens Maxwell JM, Master RN, Clark RB, Shier KL

Specialties: Infectious Disease

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Risk of Type 2 Diabetes Is Reduced in the Second Year of a Digital Diabetes Prevention Program in a Workplace Setting

Quest Diagnostics Authors: Arellano, AR, Bare, L, Birse, CE, Fragala, M, Lagier, R
Authors: Birse CE, Fragala MS, Arellano AR, Bare LA, Castro Sweet CM, Lagier RJ

Specialties: Endocrinology, Diabetes & Metabolism

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Sequential Testing to Assess Insulin Resistance in the Course of Participation in a Diabetes Prevention Program (DPP)

Quest Diagnostics Authors: Larsen, J, McPhaul, MJ
Authors: McPhaul MJ, Larsen JA, Brandon MM

Specialties: Endocrinology, Diabetes & Metabolism

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Identification of IGF-1 variants in a clinical study of 307,000 specimens: discrepancies with general population and novel discoveries

Quest Diagnostics Authors: Clarke, NJ, McPhaul, MJ, Motorykin, I, Wu, Z
Authors: Motorykin I, McPhaul MJ, Clarke NJ, Wu Z

Specialties: Endocrinology, Diabetes & Metabolism

Myelin oligodendrocyte glycoprotein (MOG) antibodies: results from first 1045 specimens tested at a clinical reference laboratory

Quest Diagnostics Authors: Batish, SD, Datta, V, Katzman, E, Radcliff , J, Sansoucy, BG
Authors: Batish SD, Datta V, Radcliff J, Katzman EM, Sansoucy B

Specialties: Neurology

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Distribution of mutations associated with congenital myasthenic syndromes (CMS): results from the first 54 specimens tested at a clinical reference laboratory

Quest Diagnostics Authors: Batish, SD, Datta, V, Lebron, F, Meservey, MA, Radcliff , J, Wang, Z
Authors: Batish SD, Wang Z, Lebron F, Meservey MA, Radcliff J, Datta V

Specialties: Genetics, Neurology

Disclaimer: One or more of the authors of this publication were employed at the time by Athena Diagnostics, a subsidiary of Quest Diagnostics.

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Prenatal Cell-Free DNA Screening for 22q11.2 Deletion Syndrome: Positive Predictive Value Estimates from a Large US Clinical Laboratory

Quest Diagnostics Authors: Alagia III, DP, Anderson, B, Guy, C, Lacbawan, F, Owen, R
Authors: Kahl K, Guy C, Karamata N, Owen R, Anderson B, Zhang K, Lacbawan FL, Alagia DP

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

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Frequency of Incidental Maternal Mosaic and Variant Turner Syndrome Detected by NIPT in a Pregnant Cohort

Quest Diagnostics Authors: Anderson, B, Blazejewski, L, Boyar, F, Guy, C, Zhang, K
Authors: Blazejewski LM, Guy C, Owen R, Anderson B, Zhang K, Boyar FZ, Alagia DP

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

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Exome testing improves diagnosis in case of individual presenting with overgrowth and global developmental

Quest Diagnostics Authors: Karbassi, I, Owen, R, Raval, FM
Authors: Hayes H, Karbassi I, Powis Z, Raval F, Owen R

Specialties: Genetics, Neurology

L-Alloisoleucine Levels in a Case Series of Patients With Isovaleric Acidemia

Quest Diagnostics Authors: Salazar, D, Tanpaiboon, P
Authors: Tanpaiboon P, Sharma R, Kucera C, Salazar D

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Drug Misuse in America 2019: Physician Perspectives and Diagnostic Insights on the Evolving Drug Crisis

Quest Diagnostics Authors: Niles, JK
Authors: Gudin J, Kain J, Kaufman H, Niles J

Specialties: Toxicology/Pain Management

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Annual Screening and Digital Behavioral Counseling in a Workplace Setting Reduce 10-year Cardiovascular Risk

Quest Diagnostics Authors: Birse, CE, Fragala, M, Iakoubova, OA, Lagier, R
Authors: Iakoubova OA, Lagier RJ, Fragala MS, McNamara K, Castro Sweet CM, Birse CE

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

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High Concordance of Non-ideal Cardiovascular Health Metrics in a Nation-wide Study of 5,364 Spouse-pairs

Quest Diagnostics Authors: Devlin, J, Mora, S, Rowland, C, Shiffman, D
Authors: Shiffman D, Louie JZ, Devlin JJ, Rowland CM, Mora S

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Correlation Of Measures Of Cardiovascular Risk To Novel Proteomic Measure Of HDL Function

Quest Diagnostics Authors: McPhaul, MJ
Authors: Penn MS, Chronos N, DeSantis D, Collier T, McPhaul MJ

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Effects of marine omega-3 supplementation on fatty acids and bioactive lipids and associations with risk of cardiovascular disease: Secondary analysis from the randomized VITamin D and OmegA-3 TriaL

Quest Diagnostics Authors: Larsen, J, Wohlgemuth, JG
Authors: Demler OV, Liu Y, Watrous J, Gibson H, Lagerborg K, Dashti H, Camargo CA Harris WS Jr., Wohlgemuth JG, Najhawan M, Dao K, Prentice J, Larsen JA, Okereke O, Costenbader K, Buring JE, Ramachandran VS, Manson JE, Cheng S, Jain M, Mora S

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

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Predictive genetic testing of children for adult-onset cancer risk: Testing indications and value of the laboratory genetic counselor

Quest Diagnostics Authors: Fesko, Y
Authors: Elaine C. Weltmer EC, Boehler K, Howell V, Tully DM, Wayne M, Brawer M, Fesko YA

Specialties: Genetics, Oncology

Outreach Opportunities for the Genetic Counseling Community: Who is ordering predictive testing on minors for adult-onset cancer risk?

Quest Diagnostics Authors: Fesko, Y
Authors: Boehler K, Weltmer EC, Howell V, Tully DM, Wayne M, Brawer M, Fesko YA

Specialties: Genetics, Oncology

Potential diagnostic ability of a rapid, targeted panel for critically ill newborns

Quest Diagnostics Authors: Krasner, M, Mullen, T
Authors: DL Stachiw-Hietpas, MR Krasner, SE Witherington and TE Mullen

Specialties: Genetics, Neurology

Theoretical Diagnostic Yield of a Rapid, Targeted Genetic Panel for Critically Ill Newborns

Quest Diagnostics Authors: Hahn, S, Lacbawan, F
Authors: DL Stachiw-Hietpas, MR Krasner, SE Witherington, TE Mullen, SE Hahn, and FL Lacbawan

Specialties: Genetics, Neurology

Theoretical diagnostic yield of a rapid, targeted genetic panel for critically ill newborns

Quest Diagnostics Authors: Hahn, S, Krasner, M, Lacbawan, F, Mullen, T, Stachiw-Hietpas, DL, Witherington, SE
Authors: Stachiw-Hietpas DL, Krasner MR, Witherington SE, Mullen TE, Hahn SE, and Lacbawan FL

Specialties: Genetics, Neurology

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Breast cancer risk among women with Lynch syndrome

Quest Diagnostics Authors: Racke, FK, Wong, ECC
Authors: Wong ECC, Noh L, Worfolk L, Wu W, Sahud M, Racke F, Dlott JS

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

Repeat Serotonin Release Testing for Heparin-Induced Thrombocytopenia after Initial Negative or Indeterminate Evaluation: A 3-Year Retrospective Study of Results from a US National Reference Laboratory

Quest Diagnostics Authors: Dlott, J, Racke, FK, Sahud, M, Wong, E, Worfolk, L
Authors: Wong ECC, Noh L, Worfolk L, Wu W, Sahud M, Racke F, Dlott JS

Specialties: Hematology/Hemostasis/Thrombosis

Development and validation of a 2-step PCR library preparation method for the detection of GBA mutations by next generation sequencing

Quest Diagnostics Authors: Buller-Burckle, A, Gerasimova, A, Owen, R, Rosenthal, SH, Smolgovsky, A
Authors: Renius Owen, Sun Hee Rosenthal, Anna Gerasimova, Alla Smolgovsky, Arlene Buller-Burckle, and Felicitas Lacbawan

Specialties: Clinical and Lab healthcare professionals, Genetics, Laboratory, Oncology

Validation of scoring metrics to guide the classification of constitutional copy number variants

Quest Diagnostics Authors: Kantarci, S
Authors: Riggs ER, Andersen E, Cherry AM, Kantarci S, Kearney H, Ankita Patel, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, and Lese Martin C

Specialties: Genetics

Antibiotic Resistance Patterns of Clinical Escherichia coli Urinary Isolates by Outpatient Practice Type

Quest Diagnostics Authors: Kapoor, H, Salm, A
Authors: Frisbie L, Weissman S, Kapoor H, D’Angeli, M, Salm A, Rabinowitz P

Specialties: Infectious Disease

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Risk Factors for Antibiotic Resistance of Escherichia coli Urinary Isolates in Outpatients

Quest Diagnostics Authors: Kapoor, H, Salm, A
Authors: Frisbie L, Weissman S, Kapoor H, D’Angeli M, Salm A, Rabinowitz P

Specialties: Infectious Disease

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Newborn Screening for Severe Combined Immunodeficiency in California, 2010-2017

Quest Diagnostics Authors: Naides, SJ
Authors: Currier RJ, Amatuni G, Naides SJ, Sciortino S, Puck JM

Specialties: Infectious Disease, Pediatrics, Women's Health/OB/GYN

Evaluation of a 42-gene Next Generation Sequencing Panel for Detection of Acute Myeloid Leukemia Mutations for Clinical Use

Quest Diagnostics Authors: Gerasimova, A, Lacbawan, F, Racke, FK, Rosenthal, SH
Authors: Rosenthal SH, Gerasimova A, Ma C, Sugganth D, Racke F, Lacbawan F

Specialties: Genetics, Oncology

Shorter Drug Testing Intervals are Associated with Improved Drug Misuse Rates

Quest Diagnostics Authors: Gudin, J, Kaufman, HW, McClure, FL, Niles, JK
Authors: Gudin J, Mehta N, McClure FL, Niles JK, W Kaufman HW

Specialties: Toxicology/Pain Management

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Herpes simplex virus type 2 (HSV-2) igg index values in two immunoassays in relation to HSV-2 igg inhibition assay results

Quest Diagnostics Authors: Batterman, HJ, Prince, H, Schwab, D
Authors: Prince HE, Batterman, HJ and Schwab DA

Specialties: Infectious Disease, Women's Health/OB/GYN

Plasma cell myeloma with a novel CCND1/ETV6 translocation

Quest Diagnostics Authors: Boyar, F, Haddadin, M, Ma, C
Authors: Mary H Haddadin, Peter H Bui, Charles Ma, Weidong Zhou, Fatih Z Boyar

Specialties: Hematology/Hemostasis/Thrombosis, Oncology

Development and Validation of an LCMSMS Assay for Therapeutic Drugs in Urine

Quest Diagnostics Authors: Dermartirosian, A, Rezaei, S, Shah, A, Shahbol, E, Thomassian, K
Authors: Karin Thomassian, Anita Dermartirosian, Shaun Rezaei, Asad Shah, Edith Shahbol

Specialties: Toxicology/Pain Management

Assay For Select Antipsychotics Drugs By LC-MS/MS In Human Serum

Quest Diagnostics Authors: Dermartirosian, A, Rezaei, S, Shah, A, Shahbol, E
Authors: Anita Dermartirosian, Karin Thomassian, Asad Shah, Edith Shahbol, Shaun Rezaei,

Specialties: Toxicology/Pain Management

Assessment of an Immunoassay and LC-MS/MS for the Detection of Fentanyl in Human Urine

Quest Diagnostics Authors: Chen, L, Jenkins, AJ
Authors: Chen L, and Jenkins AJ.

Specialties: Toxicology/Pain Management

Molecular heterogeneity of Macroprolactin in samples suspected of false hyperprolactinemia

Quest Diagnostics Authors: McPhaul, MJ
Authors: Nguyen KQN, Langevin RH, McPhaul MJ, Hashim IA

Specialties: Endocrinology, Diabetes & Metabolism

Plasma β-Amyloid 1-42/1-40 Ratio Provides Insight into the Presence of Alzheimer’s Disease

Quest Diagnostics Authors: Clarke, NJ, Ginns, EI, Lagier, R, Morneau, KR, Neusch, T, Qeleshi, A, Rowland, C
Authors: Morneau KR, Sansoucy BG, Lagier RJ, Rowland CM, Neusch T, Qeleshi A, Ginns EI, Clarke NJ

Specialties: Neurology

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Trends in HIV-1 Drug Resistance Mutations from a U.S. Reference Laboratory: 2006-2017

Quest Diagnostics Authors: Kagan, R, Kaufman, HW, Snell, GP
Authors: Kagan RM, Dunn KJ, Snell GP, Nettles RE, Kaufman HW

Specialties: Infectious Disease

Oxacillin Resistant Staphylococcus aureus (MRSA) Detection by Thermo Scientific Trek Sensititre Gram-Positive Plate vs. bioMerieux Using PBP2a as the Gold Standard

Quest Diagnostics Authors: Azad, K, Schwab, D
Authors: Azad KN, Farsinezhad M, Ang M, and Schwab DA

Specialties: Infectious Disease

Digital Behavioral Counseling in a Workforce Setting Reduces 8-year Risk of Developing Type 2 Diabetes

Quest Diagnostics Authors: Birse, CE, Fragala, M, Lagier, R
Authors: Charles E Birse, Maren S Fragala, Anita Satish, Kelsey McNamara, Cynthia M Castro Sweet, Robert J Lagier

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

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Isotopic Peak Index: a novel concept to simultaneously detect and identify 13 IGF-1 variants during routine clinical analysis

Quest Diagnostics Authors: Caulfield, MP, McPhaul, MJ, Motorykin, I, Wu, Z
Authors: Motorykin I, Caulfield MP, McPhaul MJ, Wu Z

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Urine Antidepressant Panel Screen and Confirmation by LCMSMS on Prelude

Quest Diagnostics Authors: Dermartirosian, A, Rezaei, S, Shah, A, Shahbol, E, Thomassian, K
Authors: Dermartirosian A, Shahbol E, Thomassian K, Shah A, Rezaei S

Specialties: Toxicology/Pain Management

Early Results from the BRCA Founder Outreach (BFOR) Study: Population Genetic Screening Using a Medical Model

Quest Diagnostics Authors: Fesko, Y
Authors: Morgan K, Gabriel C, Symecko H, Lester J, Levin J, Kamara D, Spielman K, Jenkins C, Hamilton JG, Y Fesko YA, Heitler J, Block J, Pace L, Robson ME, Nathanson K, Tung NM, Domchek S, Karlan B, Garber JE, Offit K

Specialties: Genetics, Oncology

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Clinical validation of long-range PCR assay for MLL (KMT2A) partial tandem duplications for acute myeloid leukemia

Quest Diagnostics Authors: Lacbawan, F, Li, H, Owen, R, Qu, K, Racke, FK, Rosenthal, SH
Authors: Rosenthal SH, Li H-R, Qu K, Liu Y, Owen R, Racke FK, Lacbawan FL

Specialties: Genetics, Oncology

Analytical validation of a 47-gene NGS panel for molecular profiling of myeloid neoplasms

Quest Diagnostics Authors: Catanese, J, Chen, R, Chong, HK, Elzinga, C, Gerasimova, A, Grupe, A, Lacbawan, F, Li, H, Nguyen, Q, Owen, R, Qu, K, Racke, FK, Rosenthal, SH, Smolgovsky, A, Wolfson, D
Authors: Rosenthal SH, Gerasimova A, Li H-R, Qu K, Acab AJ, Chong HK, Zhang X, Nguyen Q, Smolgovsky A, Wolfson D, Chen R, Grupe A, Elzinga C, Owen R, Catanese J, Racke F, and Lacbawan F

Specialties: Genetics, Oncology

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A de novo deletion of 3p21.31 disrupting SETD2

Quest Diagnostics Authors: Hodko, D
Authors: Hodko D, Mahon LW, Asaikar SM, and Kantarci S

Specialties: Genetics, Neurology

Standardization of Advanced Lipoprotein Testing: the BioSITrace Project

Quest Diagnostics Authors: Caulfield, MP
Authors: Delatour V., Clouet-Foraison N., Gaie-Levrel F., Marcovina S., Hoofnagle A., Kuklenyik Z., Caulfield M., Otvos J., Krauss R., Kulkarni K., Contois J., Remaley A., Vesper H., Cobbaert C., Giller P.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Screening for Chronic Kidney Disease and Connection to Care in a Workplace Wellness Setting: A Cost Effectiveness Analysis

Quest Diagnostics Authors: Devlin, J, Li, Y
Authors: Li Y and Devlin JJ

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Gastroenterology

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A lost decade: No Meaningful Changes in Low-Density Lipoprotein Cholesterol in the United States, 2008-2017: Insights from a National Reference Laboratory

Quest Diagnostics Authors: Kaufman, HW
Authors: Kaufman H, Schurr K., Underberg J.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Lipidology

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Monitoring Heparin Induced Thrombocytopenia Antibody Reactivity in a Heart Failure Patient Undergoing Plasma Exchange and IVIg Prior to Heart Transplantation

Quest Diagnostics Authors: Wong, ECC
Authors: Wong ECC, May CW, Ershler WB, Desai S, Bogar LJ, Singh R, Banez-Sese G, Looby MM, Sahud M, Padmanabhan A

Specialties: Cardiology, Hematology/Hemostasis/Thrombosis, Transplant

Heterogeneity of Pediatric Apheresis Physician Viewpoints and Practice Patterns: A Study by the ASFA Pediatric Subcommittee

Quest Diagnostics Authors: Wong, ECC
Authors: Raval JS, Cooling L, Huq Saifee N, Joshi S, Kim H, Meyer E, O'Leary M, Park YA, Scheiderman J, Wong E, Delaney M

Specialties: Hematology/Hemostasis/Thrombosis, Pediatrics

A Rapid, Low Volume, and Inexpensive Point of Care Method to Verify Aliquot Samples as Serum, EDTA or Citrate Plasma

Quest Diagnostics Authors: Dlott, J, Wong, ECC, Worfolk, L
Authors: Jeffrey S. Dlott, Laura A. Worfolk, Edward C.C. Wong

Specialties: Hematology/Hemostasis/Thrombosis, Laboratory

A Comprehensive Analysis of Allele Frequencies from 476,930 Spinal Muscular Atrophy Test Results

Quest Diagnostics Authors: Alagia III, DP, Evans, M, Karbassi, I, Lacbawan, F
Authors: Evans MC, Moore R, McCarthy M, Karbassi I, Alagia DP, Lacbawan F,

Specialties: Neurology

Increasing Number of Metabolic Co-Morbidities are Associated with Higher Risk of Advanced Fibrosis in Patients with Nonalcoholic Steatohepatitis

Quest Diagnostics Authors: Gish, R, Kaufman, HW
Authors: Wong RJ, Tran TT, Kaufman H, Niles J, Gish R

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Newborn Screen for MPS1 (Hurler Syndrome) – the Washington, DC experience

Quest Diagnostics Authors: Tanpaiboon, P
Authors: Grant C, Lal TR, Crosby K, Hicks R, Viall S, Tanpaiboon P

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

Biotinidase biochemical and molecular analyses: Experience at Quest Diagnostics Nichols Institute Biochemical Genetics Laboratory

Authors: Sharma R, Salazar D, Buller-Burckle A, Beierle R, Lobo RM, Lacbawan FL, Tanpaiboon P

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

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A new method for automated solid phase extraction of organic acids in urine followed by gas chromatography –time of flight mass spectrometry (GC/Q-TOF) analysis

Quest Diagnostics Authors: Clarke, NJ, Lacbawan, F, Tanpaiboon, P
Authors: Salazar D, Goldman S, Weber D, Ross J, Albi S, Patrimonio L, Albi A, Sharma R, Davoodi R, Guerrero RB, Boktor J, Lacbawan F, Tanpaiboon P, and Clarke N

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

Adherence to Antihypertensive Prescription Medication Stratified by Gender and Age: An Employer-Sponsored Health Care Perspective

Quest Diagnostics Authors: Shiffman, D
Authors: Goldberg Z, Louie J, and Shiffman D

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Lynch Syndrome Families with Breast Cancer: Majority of Observed Mutations Are in MSH6 and PMS2

Quest Diagnostics Authors: Fesko, Y, Lacbawan, F, Oddoux,, C, Rhodes , CH, Weltmer, E, Wilson, K
Authors: Weltmer Elaine C,, Wilson Kate L., Oddoux Carole, Rhodes Charlie H., Lacbawan Felicitas L., Fesko Yuri A.

Specialties: Genetics, Oncology

Preliminary Insight into CADASIL Testing: Using Aggregate Patient Data from a Clinical Diagnostics Laboratory to Improve NOTCH3 Variant Interpretation

Quest Diagnostics Authors: Batish, SD, Karbassi, I, Lacbawan, F, Lapierre, JL, Maston, G, McCarthy, M, Mullen, T, Raval, FM
Authors: Raval FM, Lapierre JL, Maston G, Patel U, McCarthy M, Karbassi I, Batish SD, Mullen T, and Lacbawan F

Specialties: Genetics, Neurology

Confirmatory methods used for germline NGS testing teach us about the strengths and weaknesses of molecular technologies

Quest Diagnostics Authors: Batish, SD, DiVincenzo, C, Evans, M, Lacbawan, F, Mullen, T, Rajapakse, J, Wang, Z
Authors: Thomas Mullen, Jalini Rajapakse, Matthew Evans, Christina DiVincenzo, Sat Dev Batish, Zhenyuan Wang, and Felicitas Lacbawan

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

Maternal Chimerism as a Cause of Confounded Gender Reporting and Gender Discordance in cfDNA Screening

Quest Diagnostics Authors: Anderson, B, Blazejewski, L, Chen, N, Koch, S, Masiello, M, Owen, R, Schonberg, S
Authors: Blazejewski LM, Koch S, Masiello M, Chen N, Schonberg SA, Owen R, Zhang K, Anderson B, Lacbawan FL

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

Looming False Negatives: Reconsidering the clinical significance of synonymous variants

Quest Diagnostics Authors: DiVincenzo, C, Hiller, E, Karbassi, I, Lacbawan, F, Maston, G, Mullen, T
Authors: Maston G, Hiller E, Karbassi I, DiVincenzo C, Mullen T, Lacbawan F

Specialties: Genetics

Anticipated Positive Rates for Genetic Testing in the General Population: a “Virtual Panel” Approach

Quest Diagnostics Authors: Hellman, A, Mullen, T, Nakles-Taylor, R, Nery, C
Authors: Hiller E, Maston G, Karbassi I, Andrew Hellman A, Nery C, Nakles-Taylor R, Mullen T

Specialties: Genetics, Oncology

Double Heterozygotes and Carriers of Biallelic Pathogenic Variants Identified During Genetic Testing for Hereditary Cancer Risk at a Diagnostic Laboratory

Quest Diagnostics Authors: Buller-Burckle, A, Chen, R, Hiller, E, Karbassi, I, Lacbawan, F, Nakles-Taylor, R, Nery, C, Rion, J
Authors: Nakles-Taylor R, Chen R, Rion J, Hiller E, Nery C, Karbassi I, Buller-Burckle A, Lacbawan F

Specialties: Genetics, Oncology

Standards for the Classification and Reporting of Constitutional Copy Number Variants: A ClinGen/ACMG Joint Consensus Recommendation

Quest Diagnostics Authors: , V, Kantarci, S, Nakles-Taylor, R
Authors: Rooney Riggs E, Andersen E, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, and Lese Martin C

Specialties: Genetics, Neurology

A proteomic predictor of lipoprotein function and coronary artery disease: from conception to launch

Quest Diagnostics Authors: Collier, T, Jin, Z
Authors: Timothy S Collier, Zhicheng Jin, Darlene LY Dai, Virginia Chen, Zsuzsanna Hollander, Raymond T Ng, Bruce M McManus, Robert Balshaw, Sophia Apostolidou, Marc S Penn, Cory Bystrom

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Disclaimer: One or more of the authors of this publication were employed at the time by Cleveland HeartLab, a subsidiary of Quest Diagnostics.

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Workplace program that offers annual fecal immunochemical testing improves adherence to colorectal cancer screening guidelines

Quest Diagnostics Authors: Bare, L, Birse, CE, Fragala, M, Satish, A, Tong, CH
Authors: Carmen H. Tong, Anita Satish, Maren S. Fragala, Lance A. Bare, and Charles E. Birse

Specialties: General Health and Wellness, Oncology

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Assessment of microsatellite instability (MSI) status in colorectal cancer tissue using a next-generation sequencing-based tumor profiling assay

Quest Diagnostics Authors: Arnal, S, Daniel, S, Lacbawan, F, Qu, K, Sheikholeslami, MR, Sunkara, S, Zhang, ZJ
Authors: Kevin Qu, Suzzette Arnal, Charles Ma, and Sugganth Daniel

Specialties: Genetics, Oncology

Simultaneous Monitoring of 13 IGF-1 Variants in a Clinical Mass Spectrometry Assay

Quest Diagnostics Authors: Caulfield, MP, McPhaul, MJ, Motorykin, I, Wu, Z
Authors: Ievgen Motorykin, Michael P. Caulfield, Michael J. McPhaul, Zengru Wu

Specialties: Endocrinology, Diabetes & Metabolism

Evaluation of Copeptin as a Surrogate for AVP in the Diagnosis of Water Metabolism Disorders

Quest Diagnostics Authors: Caston-Balderrama, A, Caulfield, MP, McPhaul, MJ
Authors: Michael J. McPhaul, Michael P. Caulfield, Anne L. Caston

Specialties: Endocrinology, Diabetes & Metabolism

Differences In Assay Results Can Be Traced To The Metabolism Of Administered Progesterone In Women Taking Progesterone Supplementation

Quest Diagnostics Authors: Caulfield, MP, McPhaul, MJ, Wu, Z
Authors: Zengru Wu, Ascot B Tabucan, Michael P Caulfield, Cheryl Briggs, Justin Joiner, John Abraham, Michael J McPhau

Specialties: Endocrinology, Diabetes & Metabolism, Women's Health/OB/GYN

Heterogeneity of Macroprolactin in Samples Suspected of False Hyperprolactinemia

Quest Diagnostics Authors: McPhaul, MJ
Authors: Khanh Quynh N. Nguyen, Rachel H. Langevin, Michael J. McPhaul, Ibrahim A. Hashim

Specialties: Endocrinology, Diabetes & Metabolism

A case of AMPAR2 encephalitis with impaired cognition

Quest Diagnostics Authors: Naides, SJ
Authors: Saadatpour L, Sullivan AC, Naides, SJ, Parker AS

Specialties: Infectious Disease, Neurology

Newborn screen for MPS I (Hurler syndrome) – The Washington, DC experience

Quest Diagnostics Authors: Tanpaiboon, P
Authors: Grant C, T Lal TR, Crosby K, Hicks R, Viall S, Tanpaiboon P

Specialties: Infectious Disease, Pediatrics

Measuring trends in hepatitis C testing with commercial laboratory data

Quest Diagnostics Authors: Kaufman, HW
Authors: Canary L, Thompson WW, Nelson NP, Kaufman H

Specialties: Infectious Disease, Laboratory

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Yearly Percent Incidence of Suspected Novel Oral Anticoagulant Interference on Thrombophilia Testing: A Nine Year Experience at a Reference Coagulation Laboratory

Quest Diagnostics Authors: Dlott, J, Wong, E, Worfolk, L
Authors: Wong EC, Worfolk LA, Dlott JS

Specialties: Hematology/Hemostasis/Thrombosis

Five Year Study of Unfractionated Heparin Serotonin Release Testing at a Large U.S. Reference Laboratory

Quest Diagnostics Authors: Dlott, J, Wong, E
Authors: Wong ECC, Sahud M, Noh LJ, Aboueyada AM, Frock RA, Haley CL, Dlott JS. William W. Wu

Specialties: Hematology/Hemostasis/Thrombosis

An Unexpected Pathogenic SDHC Variant Detected by Germline Cancer Panel Testing

Quest Diagnostics Authors: Fesko, Y, Hiller, E, Wilson, K
Authors: Haskins, CG; Wilson, K;Hiller, EH, Fesko, Y; Zhang, Q; Hess, CA

Specialties: Genetics, Oncology

Employee Wellness Program Can Identify Those Who May Benefit from Cholesterol Reduction Efforts

Quest Diagnostics Authors: Devlin, J, McPhaul, MJ, Shiffman, D
Authors: Devlin J, McPhaul M, Louie J, Shiffman D

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

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A Novel Proteomic Predictor of Cholesterol Efflux Capacity Demonstrates Inverse Association with Cardiovascular Disease

Quest Diagnostics Authors: Bystrom, C
Authors: Jin Z, Collier TS, Dai DLY, Chen V, Hollander Z, Ng RT, McManus BM, Balshaw R, Apostolidou S, Penn MS, Bystrom C

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Genetics

Genetic Risk Score Associated With Atrial Fibrillation Detected by Insertable Cardiac Monitoring in High-Risk Patients: A REVEAL AF Trial Sub-Study

Quest Diagnostics Authors: Devlin, J
Authors: Verma A, Reiffel JA, Wachter R, Kowey PR, Halperin JL, Gersh BJ, Elkind MSV, Tong CH, Rowland CM, Devlin JJ, Ziegler PD, Iakoubova OA

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

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Changing National and Regional Prevalence of Hepatitis B Virus Infection (HBV) among Reproductive-Aged Women and Children in the U.S., 2011-2017

Quest Diagnostics Authors: Chen, Z, Kaufman, HW
Authors: Kushner T, Chen Z, Tressler S, Kaufman H, Jones-López EC, Feinberg J, Terrault N

Specialties: Infectious Disease, Pediatrics, Women's Health/OB/GYN

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Adjusting the pH of urine samples provides a more accurate measurement of cytomegalovirus viral load by correcting stability of the nucleic acid in urine samples

Quest Diagnostics Authors: Galdzicka , M
Authors: Galdzicka M, Strong J

Specialties: Infectious Disease

Noninvasive Prenatal Screening: Can we identify fetuses that are mosaic 45,X/46,XY?

Quest Diagnostics Authors: Buller-Burckle, A, Owen, R
Authors: Chen N, Zhang Q, Masiello ML, Buller-Burckle A, Owen R, Quan F

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

BRAF V600E and beyond in Non-Small Cell Lung Cancer and other solid tumors

Quest Diagnostics Authors: Horton, C, McNeill, N
Authors: Horton CJ, McNeill N, Freitas T, Shiller M

Specialties: Oncology

Concomitant PD-L1 Expression and Driver Oncogenes in Non-Small Cell Lung Cancer

Quest Diagnostics Authors: Horton, C, McNeill, N
Authors: McNeill N, Horton CJ, Freitas T, Shiller M

Specialties: Oncology

Individuals with unrecognized chronic kidney disease can be identified and referred into care by a workplace wellness program

Quest Diagnostics Authors: Arellano, AR, Bare, L, Birse, CE, Devlin, J, Iakoubova, OA
Authors: Iakoubova OA, Arellano AR, Tong CH, Bare LA, Devlin JJ and Birse CE

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Gastroenterology

A straightforward method to improve variant calling sensitivity for a MSH2 splicing mutation (c.942+3A>T) using GATK tools

Quest Diagnostics Authors: Buller-Burckle, A, Gerasimova, A, Grupe, A, Moler, E, Rosenthal, SH, Smolgovsky, A
Authors: Gerasimova A, Rosenthal SH, Wolfson D, Smolgovsky A, Grupe A, Buller-Burckle AGerasimova A, Rosenthal SH, Wolfson D, ASmolgovsky A, Grupe A, Buller-Burckle A, Edward Moler E, Elzinga C, Edward Moler E, Elzinga C

Specialties: Genetics, Oncology

Re-computing NGS read depth statistics to standardize QC of disparate variant call outputs for clinical genomics applications

Quest Diagnostics Authors: Bhattacharya, A, Gerasimova, A, Moler, E, Nguyen, Q
Authors: Bhattacharya A, Gerasimova A, Nguyen Q, Elzinga C, Moler E

Specialties: Genetics

Scaling the Resolution of Sequence Variant Classification Discrepancies in ClinVar

Authors: Harrison SM, Dolinksy JS, Chen W, Coffey A, Collins CD, Das S, Deignan JL, Garber KB, Garcia J, Jarinova O, Karbassi I, Knight Johnson AE, Koskenvuo JW, Lee H, Mao R, Maver A, Mar-Heyming R, McFaddin A, Moyer K, Nagan N, Rentas S, Santani AB, Saunders C, Seppälä EH, Shirts B, Tidwell T, Topper S, Vincent LM, Vinette K and Rehm HL

Specialties: Genetics

Evaluating Dosage Sensitivity of Genes Associated with Neurodevelopmental Disorders

Quest Diagnostics Authors: Kantarci, S
Authors: Riggs ER, Barry C-A,Ahn JW, Brandt T, Cano O, Cao Y, Goodenberger M, Kantarci S, Khan W, Li G, Ngo C, Risheg H, Runke C, Su M, Shen Y, Aradhya S, Thorland E, and Martin CL

Specialties: Genetics, Neurology

Detection of Alpha-thalassemia common large deletions by Next Generation Sequencing

Quest Diagnostics Authors: Lacbawan, F, Owen, R
Authors: Rosenthal SH, Gerasimova A, Owen R, Catanese J, Buller-Burckle A, and Lacbawan F

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

Introduction to AABB session: Reversing Anticoagulant Associated Bleeding: From Warfarin to the Direct Oral Anticoagulants (A to X)

Quest Diagnostics Authors: Wong, E

Specialties: Hematology/Hemostasis/Thrombosis

Management of Perioperative Coagulopathy–Are There Alternatives to Plasma Transfusion?

Quest Diagnostics Authors: Wong, E

Specialties: Hematology/Hemostasis/Thrombosis

Correlation of Quantitative Hepatitis B surface antigen (qHBsAg) with Hepatitis B virus (HBV) DNA levels as an indicator of viral clearance

Authors: Lapé Nixon ML,, Kagan RM, Schwab DA,, Pesano RL,, Baumann RE., Batterman HJ.

Specialties: Gastroenterology, Infectious Disease

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Hepatitis C Virus in Women of Child-bearing Age, Pregnant Women and Young Children

Quest Diagnostics Authors: Kaufman, HW
Authors: Schillie SF,, Canary L, Koneru A, Nelson NP,, Tanico W, Kaufman KW., Hariri S,, Vellozzi CJ.

Specialties: Infectious Disease, Pediatrics, Women's Health/OB/GYN

Real-World Anaplastic Lymphoma Kinase Testing Practices: Results From a Survey in the United States

Quest Diagnostics Authors: Racke, FK
Authors: Bloom K, Sudarsanam S, Hwang H, Racke F, Astrow SH, Moran M, Chloda MD, Sheng J, Ramage J, Mardekian J, Iafrate J

Specialties: Oncology

Concurrent Use of Opioid and Benzodiazepine:What the Prescription Drug Monitoring Database Does Not Tell You

Quest Diagnostics Authors: Gudin, J, Kaufman, HW, McClure, FL, Niles, JK
Authors: Gudin F, McClure FL, Niles JK, Kaufman HW

Specialties: Toxicology/Pain Management

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Diagnosis of Fatty Acid Oxidation Disorders: Experience at Quest Diagnostics Nichols Institute Biochemical Genetics Laboratory.

Quest Diagnostics Authors: Lacbawan, F, Tanpaiboon, P
Authors: Sharma R, Tanpaiboon P, Salazar D, Bonilla-Guerrero R, Lacbawan FL, Asaikar SM

Specialties: Genetics, Neurology

Retesting rates after a positive Chlamydia trachomatis test result: experience from a large clinical reference laboratory

Quest Diagnostics Authors: Alagia III, DP, Waters, S, Wrenn, D
Authors: Alagia P, Waters SM, Okoye I, Wrenn D

Specialties: Clinical and Lab healthcare professionals, Infectious Disease, Laboratory, Pathology, Laboratory Medicine, Women's Health/OB/GYN

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A Novel High-Throughput Antibody-free LC-MS/MS assay to Quantitate Chromogranin-A in Serum (Encore Poster)

Quest Diagnostics Authors: Caulfield, MP, Clarke, NJ, McPhaul, MJ
Authors: Weber DM, Goldman S, McPhaul MJ, Caulfield MP, Clarke NJ

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Neurology

Laboratory Methods in Autoimmune Neurology

Quest Diagnostics Authors: Naides, SJ

Specialties: Neurology, Rheumatology/Immunology/Allergy

Influence of age on bordetella pertussis antibody levels in blood donor sera collected in 2009 and 2017

Quest Diagnostics Authors: Schwab, D
Authors: Prince HE, Schwab DA

Specialties: Infectious Disease

Polymorphisms of LEP, LEPR, DRD2, HTR2A and HTR2C genes and risperidone- or clozapine-induced hyperglycemia

Quest Diagnostics Authors: Yang, S
Authors: Yang, S

Specialties: Clinical and Lab healthcare professionals, Laboratory, Toxicology/Pain Management

Polymorphisms of LEP, LEPR, DRD2, HTR2A and HTR2C genes and risperidone- or clozapine-induced hyperglycemia

Quest Diagnostics Authors: Kroll, MH
Authors: Kroll, M

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Genetics, Neurology

Temporal Patterns of Troponin I and Jarisch-Herxheimer Reaction in Cryptococcus gattii Infection

Quest Diagnostics Authors: Hoekstra, K
Authors: Hoekstra, K

Specialties: Infectious Disease

Molecular heterogeneity of Macroprolactin in samples suspected of false hyperprolactinemia

Quest Diagnostics Authors: McPhaul, MJ
Authors: Nguyen KN, Langevin R, McPhaul M, Hashim LA

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

ICP-MS: Essentials and Interactive Case Studies on Elemental Testing in Clinical Laboratories (Scientific Session)

Quest Diagnostics Authors: Yang, S

Specialties: Clinical and Lab healthcare professionals, Laboratory, Other, Toxicology/Pain Management

Technological Advances in Allergen-specific IGE antibody testing (Oral presentation)

Quest Diagnostics Authors: Horner, A

Specialties: Infectious Disease, Rheumatology/Immunology/Allergy

Reduction of Diabetes and Cardiovascular Risk in a Workforce after Digital Behavioral Counseling

Quest Diagnostics Authors: Birse, CE, Lagier, R
Authors: Birse CE, Lagier RJ, Chew P, Jasik C, Madero EN

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

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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

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

Specialties: Genetics

Rapid, Accurate Identification of Candida auris by Using a Novel MALDI-TOF Database (Library)

Quest Diagnostics Authors: Azad, K, Bao, J, Master, R, Schwab, D, Shier, K
Authors: Bao Jian R., Master Ronald N., Azad Kamran N., Schwab Dale A., Clark Richard B, Jones Robert S, Moore Elizabeth C., . Shier Kileen L.

Specialties: Infectious Disease

Rapid, Accurate Identification of Candida auris by Using a Novel MALDI-TOF Database (Library)

Quest Diagnostics Authors: Azad, K, Bao, J, Master, R, Schwab, D, Shier, K
Authors: Bao Jian R., Master Ronald N., Azad Kamran N., Schwab Dale A., Clark Richard B, Jones Robert S, Moore Elizabeth C., . Shier Kileen L.

Specialties: Infectious Disease

Rapid, Accurate Identification of Candida auris by Using a Novel MALDI-TOF Database (Library)

Quest Diagnostics Authors: Azad, K, Bao, J, Master, R, Schwab, D, Shier, K
Authors: Bao Jian R., Master Ronald N., Azad Kamran N., Schwab Dale A., Clark Richard B, Jones Robert S, Moore Elizabeth C., . Shier Kileen L.

Specialties: Infectious Disease

Variability in ICAP (International Consensus on ANA Patterns) Pattern Reporting in Testing for Antinuclear Antibodies (ANA) by Indirect Immunofluorescence Assay (IFA)

Quest Diagnostics Authors: Naides, SJ
Authors: Naides S, Genzen J, Abel G, Bashleben C, Ansari MQ

Specialties: Rheumatology/Immunology/Allergy

Variability in Method of Testing for Antinuclear Antibodies (ANA): A Survey of Participants in the College of American Pathologist’s (CAP) Proficiency Testing Program

Quest Diagnostics Authors: Naides, SJ
Authors: Naides S, Genzen J, Abel G, Bashleben C, Ansari MQ

Specialties: Rheumatology/Immunology/Allergy

Apoptotic Bodies Containing dsdna Covalently Modified by Parvovirus b19 Non-structural Protein ns1 Induce dsdna Autoantibodies and End Organ Damage in Non-autoimmune Mice

Quest Diagnostics Authors: Naides, SJ
Authors: Pirttinen H, Puttaraksa K, Lagier RJ, Naides SJ, and Gilbert L

Specialties: Rheumatology/Immunology/Allergy

Development and Validation of Immunoassays for Paraneoplastic Neurological Disorders using a Parallel Nanoscale Microfluidic Analysis System

Quest Diagnostics Authors: Batish, SD, Clarke, NJ, Higgins, JJ
Authors: Trela UT, Morneau K, Sansoucy BG, Goldberger A, Xharja R, Twombly K, Apiri OK, Borowy D, Katzman EM, Noyst B, Loveland P, Willis JL, Jocson M, Wang Z, Dev Batish S, Clarke NJ, and Higgins JJ

Specialties: Neurology

The Frequency of LRP4 Autoantibodies in Serum Specimens Sent to a Clinical Laboratory for Myasthenia Gravis Testing

Quest Diagnostics Authors: Batish, SD, Higgins, JJ
Authors: Batish Sat Dev, Sansoucy Brian, Goldberger Amy, Morneau Keith, Trela Urszula T., Qeleshi Altin, Meservey Marc, Willis Jamie, Katzman Emily, Noyst Beth, Gagnon Kelsey, Ngo Diana H., Higgins Joseph J.

Specialties: Neurology

Analysis of 234 Epilepsy Genes for Sequence and Copy Number Variants Using Next Generation Sequencing

Quest Diagnostics Authors: Higgins, JJ
Authors: Wang Z, Meservey M, Karbassi I, Dev Batish S, Maston G, McCarthy M, Higgins J

Specialties: Neurology

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

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

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

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

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

A Novel High-Throughput Antibody-free LC-MS/MS assay to Quantitate Chromogranin-A in Serum

Quest Diagnostics Authors: Caulfield, MP, Clarke, NJ, McPhaul, MJ
Authors: Weber DM, Goldman S, McPhaul MJ, Caulfield MP, Clarke NJ

Specialties: Endocrinology, Diabetes & Metabolism

Elevated Hemoglobin A1c is associated with incident diabetes within 4 years among normoglycemic, working-age individuals in an employee wellness program

Quest Diagnostics Authors: Devlin, J, McPhaul, MJ
Authors: Shiffman D, Tong CH, Devlin JJ, Meigs JB, McPhaul MJ

Specialties: Endocrinology, Diabetes & Metabolism

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Derivatizing serum testosterone in patient samples increases throughput in a multiplexed LC-MS/MS assay

Quest Diagnostics Authors: Caulfield, MP, Clarke, NJ, McPhaul, MJ
Authors: Redor-Goldman MM, Colletti JD, Simbulan, NL, Caulfield, MP, McPhaul MJ, and Clarke NJ

Specialties: Endocrinology, Diabetes & Metabolism

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Use of a Metabolomic Approach to Non-invasively Diagnose Nonalcoholic Fatty Liver Disease (NAFLD) in Patients with Type 2 Diabetes Mellitus (T2DM).

Quest Diagnostics Authors: Caulfield, MP, McPhaul, MJ
Authors: Bril F, Millán L, Kalavalpalli S, McPhaul MJ, Caulfield MP, Martinez-Arranz I, Alonso C, Betes PO, Mato JM, Cusi K

Specialties: Endocrinology, Diabetes & Metabolism

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Analysis of IGF-1 variants using high resolution mass spectrometry in a commercial testing laboratory

Quest Diagnostics Authors: Caulfield, MP, McPhaul, MJ
Authors: Wu Z, Sanders HR, Caulfield MP, McPhaul MJ

Specialties: Endocrinology, Diabetes & Metabolism

Therapeutic drug monitoring of the newer generation anticonvulsant medications by LC-MS/MS

Quest Diagnostics Authors: Yang, S
Authors: Yang, He S. Thomassian K, Dermartirosian A

Specialties: Clinical and Lab healthcare professionals, Laboratory, Toxicology/Pain Management

Therapeutic Drug Monitoring of lacosamide, a newer antiepileptic drug, by LC-MS/MS

Quest Diagnostics Authors: Yang, S
Authors: Yang S, Thomassian K, Dermartirosian A

Specialties: Clinical and Lab healthcare professionals, Laboratory, Toxicology/Pain Management

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

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

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Quantitative serum hepatitis B surface antigen (HBsAg) assay validation for U.S. patient testing

Quest Diagnostics Authors: Gish, R, Kapoor, H, Leake, JA, Pesano, RL, Schwab, D
Authors: LapeNixon M, Leake J, Kapoor H, Schwab D, Pesano R, Gish R

Specialties: Infectious Disease, Rheumatology/Immunology/Allergy

Comparison of Fasting and Nonfasting Lipoprotein Subfractions and Size in 13,460 Apparently Healthy Individuals

Quest Diagnostics Authors: Caulfield, MP, Wohlgemuth, JG
Authors: Farukhi Z, Demler O, Caulfield MP, Kulkarni K, Wohlgemuth J, Cobble M, Luttmann-Gibson H, Cook NR, Krauss RM, Manson JE, Mora S

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Lipidology

Examination of mental health comorbidities among HCV-infected persons in the U.S.

Quest Diagnostics Authors: Kaufman, HW
Authors: Canary L, Thompson WW, Isenhour C, Kaufman H, Vellozzi C

Specialties: Infectious Disease, Rheumatology/Immunology/Allergy

Laboratory Data for Public Health Surveillance of Prediabetes and Diabetes in California

Quest Diagnostics Authors: Kaufman, HW, McPhaul, MJ
Authors: Dingbaum E, Gernon L, Darsiea B,Taylor C, McPhaul M, Huang X, Kaufman H, Núñez de Ybarra J

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

14-3-3 (eta) Protein in Juvenile Idiopathic Arthritis (JIA) Patients

Quest Diagnostics Authors: Naides, SJ
Authors: Tuttle P, Feller L, Zhukov OS, Lagier RJ, Bridgforth R, Williams GJ, Popov JM, Naides SJ, Moore T

Specialties: Infectious Disease, Rheumatology/Immunology/Allergy

Variability in Method of Testing for Antinuclear Antibodies (ANA): A Survey of Participants in the College of American Pathologist’s (CAP) Proficiency Testing Program

Quest Diagnostics Authors: Naides, SJ
Authors: Naides SJ, Genzen J, Abel G, Bashleben C, Qasim Ansari M

Specialties: Infectious Disease, Rheumatology/Immunology/Allergy

Variability in ICAP (International Consensus on ANA Patterns) Pattern Reporting in Testing for Antinuclear Antibodies (ANA) By Indirect Immunofluorescence Assay (IFA)

Quest Diagnostics Authors: Naides, SJ
Authors: Naides SJ, Genzen J, Abel G, Bashleben C, Qasim Ansari M

Specialties: Infectious Disease, Rheumatology/Immunology/Allergy

Apoptotic Bodies Containing dsDNA Covalently Modified by Parvovirus B19 Non-structural Protein NS1 Induce dsDNA Autoantibodies and End Organ Damage in Non-autoimmune Mice

Quest Diagnostics Authors: Naides, SJ
Authors: Naides S, Puttaraksa K, Pirttinen H, Gilbert L

Specialties: Infectious Disease, Rheumatology/Immunology/Allergy

Laboratory Testing of Heavy Metals in Blood Using ICP-MS (Oral presentation)

Quest Diagnostics Authors: Yang, S

Specialties: Clinical and Lab healthcare professionals, Laboratory, Toxicology/Pain Management

Racial Differences in Fasting and Nonfasting Lipoprotein Subfractions and Size in 12,178 Apparently Healthy Individuals

Quest Diagnostics Authors: Caulfield, MP, Wohlgemuth, JG
Authors: Farukhi Z, Demler O, Caulfield MP, Kulkarni K, Wohlgemuth J, Cobble M, Luttman-Gibson H, Cook NR, Krauss RM, Manson JE, Mora S

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

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

Specialties: Genetics, Oncology

Managing Chronic Conditions Dementia

Quest Diagnostics Authors: Higgins, JJ
Authors: Higgins JJ

Specialties: Neurology

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.

Specialties: Genetics, Laboratory, Oncology

Classical Cytogenetics: It's still relevant.

Quest Diagnostics Authors: Boles, D
Authors: Debra Boles

Specialties: Genetics

The relationship between IGF-I and –II concentrations and body composition at birth and over the first 2 months of life

Quest Diagnostics Authors: Caulfield, MP, McPhaul, MJ, Reitz, R
Authors: Hawkes CP, Grimberg A, Kenny LC, Kiely M, O’B Hourihane J, Irvine AD, Sikora K, Larsen JA, Caulfield MP, Argon Y, Reitz RE, McPhaul MJ, Zemel BS, Murray DM

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Measurement of IGF-I and –II concentrations at birth by mass spectrometry in a large birth cohort: Correlation with anthropometry

Quest Diagnostics Authors: Caulfield, MP, McPhaul, MJ, Reitz, R
Authors: Hawkes CP, Murray DM, Kenny LC, Kiely M, O’B Hourihane J, Irvine AD, Sikora K, Larsen JA, Caulfield MP, Argon Y, Reitz RE, McPhaul MJ, Grimberg A.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Collaboration of Variant Science and Oncology Genetics in Prenatal Diagnosis for CMMRD: a Case Report

Quest Diagnostics Authors: Buller-Burckle, A, Lacbawan, F
Authors: Susan W. Koch, Elaine H. Hiller, Carolyn P. Castonguay, Kristin Zelley, Jennifer Hopper, Arlene M. Buller-Burckle, Felicitas L. Lacbawan

Specialties: Women's Health/OB/GYN

Understanding Characteristics of Industry Genetic Counselors to Inform Ongoing Workforce Discussions

Quest Diagnostics Authors: Hahn, SE
Authors: Amanda Bergner, Deepti Babu, Shelly Cummings, Susan Hahn, Kirsty McWalter, Christopher Ta

Specialties: Women's Health/OB/GYN

Clinical and Economic Benefits of Cervical Cancer Co-Testing with 3- and 5-Year Intervals

Quest Diagnostics Authors: Hillborne, L
Authors: Michael J Lacey, Gregory M Lenhart, Jeffrey D Miller, Lee H Hilborne, Scott K Pohlman, Adrian Vilalta, Kathleen A Troeger, Juan C Felix

Specialties: Women's Health/OB/GYN

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Fifteen years’ experience: Diagnosis of fatty acid oxidation disorders at Quest Diagnostics Nichols Institute Biochemical Genetics Laboratory

Quest Diagnostics Authors: Lacbawan, F
Authors: Sharma R, Salazar D, Bonilla-Guerrero R, Davoodi-Semiromi A, Neidich JA, Owen R and Lacbawan, FL

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Five years’ experience: Diagnosis of peroxisomal storage disorders by very long chain fatty acids (VLCFA) analysis at Quest Diagnostics Nichol’s Institute Biochemical Genetics Laboratory

Quest Diagnostics Authors: Lacbawan, F
Authors: Sharma R, Salazar D, Bonilla-Guerrero R, Davoodi-Semiromi A and Lacbawan, FL.

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

ANCA-Associated Vasculitis: Introduction and a Case Study

Quest Diagnostics Authors: Lewis, C
Authors: Lewis C

Specialties: Infectious Disease

Neurology Diagnostics

Quest Diagnostics Authors: Naides, SJ

Specialties: Infectious Disease

Variability in Approach to Initial Antinuclear Antibodies (ANA) Testing and Follow-Up Testing: a Survey of Participants in the College of American Pathologist’s Proficiency Testing Program

Quest Diagnostics Authors: Naides, SJ
Authors: Genzen JR, Abel G, Shan M, Bashleben C, Ansari MQ

Specialties: Infectious Disease

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Case report: Transmission of a primary integrase inhibitor resistance mutation identified in a Bronx, NY ambulatory clinic

Quest Diagnostics Authors: Batterman, HJ
Authors: Kanter T, Kagan R, Omara A, Menon A, Gonzalez E, Singh M, Zeana C, Kelly P, Cavallo M, Purswani M

Specialties: Infectious Disease

Development of a Novel Multi-Biomarker Assessment Score for Alzheimer’s Disease

Quest Diagnostics Authors: Clarke, NJ
Authors: Weber DM, Goldman S, Lagier R, Rowland C, Rissman R, Brewer J, Clarke N

Specialties: Neurology

Development and validation of a self-collection blood test for athletic assessment of hormones

Quest Diagnostics Authors: Bi, C, Clarke, NJ, Fragala, M
Authors: M.S. Fragala, S.M. Goldman, C. Bi, M.M. Goldman, S.M. Arent, A.J. Walker, N.J. Clarke

Specialties: Sports Medicine

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Technical and Clinical Implications of Maternal Chromosome Xp Deletion Identified by Prenatal Cell-free DNA Screening

Quest Diagnostics Authors: Owen, R, Strom, C, Zhang, K
Authors: Ilagan B, Maxwell M, Fisher B, Milanovich J, Owen R, Anderson B, Zhang K and Strom C

Specialties: Women's Health/OB/GYN

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Maternal derivative X chromosome with loss of Xq and gainof 4q identified following prenatal cfDNA screening:implications for clinical management

Quest Diagnostics Authors: Lacbawan, F, Rabin, D, Zhang, K
Authors: Guy C, Maxwell M, Owen R, Ghaffari G, Naggar ME, Anderson B, Zhang K, Rabin D, and Lacbawan F

Specialties: Women's Health/OB/GYN

Variability in Method of Testing for Antinuclear Antibodies (ANA): A Survey of Participants in the College of American Pathologist’s (CAP) Proficiency Testing Program

Quest Diagnostics Authors: Naides, SJ
Authors: Naides SJ, Genzen JR, Abel G, Shan M, Bashleben C, Ansari MQ

Specialties: Infectious Disease, Rheumatology/Immunology/Allergy

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Variability in ICAP (international Consensus on ANA Patterns) Pattern Reporting in Testing for Antinuclear Antibodies (ANA) by Indirect Immunofluorescence Assay (IFA)

Quest Diagnostics Authors: Naides, SJ
Authors: Naides SJ, Genzen JR, Abel G, Shan M, Bashleben C, Ansar MQi

Specialties: Infectious Disease, Rheumatology/Immunology/Allergy

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Serum Insulin and C-Peptide Levels Predict Insulin Resistance (IR) in Apparently Healthy Individuals

Quest Diagnostics Authors: Devlin, J, McPhaul, MJ
Authors: Abbasi F, Shiffman D, Tong CH, Devlin JJ, Reaven GM, McPhau MJl

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

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Type 2 diabetes (T2D) Prediction by Hemoglobin A1c (A1C) in Real-World Scenarios

Quest Diagnostics Authors: McPhaul, MJ
Authors: Leong A, Daya N, Porneala B, Devlin JJ, Shiffman D, McPhaul MJ, Selvin E, Meigs JB

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Short Signature rpoB Gene Sequence to Differentiate Members of the Mycobacterium chelonae-M.abscessus Complex

Quest Diagnostics Authors: Clark, R
Authors: J. Bao, R. B. Clark, K. L. Shier, R. N. Master

Specialties: Infectious Disease, Rheumatology/Immunology/Allergy

Regional Epidemiology of Enteric Pathogens in 2015

Quest Diagnostics Authors: Kapoor, H, Schwab, D
Authors: Kapoor H, Schwab DA, Cromien JL

Specialties: Infectious Disease, Rheumatology/Immunology/Allergy

Associations of Aerobic and Strength Exercise with Clinical Laboratory Test Values

Quest Diagnostics Authors: Bi, C, Fragala, M, Kaufman, HW, Kroll, MH
Authors: Maren. S. Fragala, Caixia Bi, Michael Chaump, Harvey W. Kaufman, Martin H. Kroll

Specialties: Sports Medicine

Monitoring Markers of Nutrition Status Throughout a Collegiate Soccer Season

Quest Diagnostics Authors: Fragala, M
Authors: Courteney L. Benjamin, Robert A. Huggins, Ryan M. Curtis, Andrea R. Fortunati, Maren S. Fragala, Mathew L. Hall, Elaine C. Lee, David P. Looney, Chris A. West, Douglas J. Casa

Specialties: Sports Medicine

Monitoring Markers of Oxygen Transport Throughout A Collegiate Soccer Season

Quest Diagnostics Authors: Fragala, M
Authors: Andrea R. Fortunati, Robert A. Huggins, Ryan M. Curtis, Garrett J. Fontaine, Matthew L. Hall, Elaine C. Lee, David P. Looney, Chris A. West, Douglas J. Casa, Maren S. Fragala

Specialties: Sports Medicine

Monitoring Cardiovascular, Hepatic, Renal, And Hematological Markers Of Health In Collegiate Soccer Players

Quest Diagnostics Authors: Fragala, M
Authors: Courteney L. Benjamin, Robert A. Huggins, Ryan M. Curtis, Andrea R. Fortunati, Maren S. Fragala, Mathew L. Hall, Elaine C. Lee, David P. Looney, Chris A. West, Douglas J. CasaWilliam M. Adams, Robert A. Huggins, Ryan Curtis, Abigail T. Colburn, Andrea R. Fortunati, Matthew L. Hall, Maren S. Fragala, David P. Looney, Elaine C. Lee, Chris A. West, Douglas J. Casa

Specialties: Sports Medicine

Biomarkers of Endocrine, Muscle, and Inflammatory Health Track Training Load of a Collegiate Soccer

Quest Diagnostics Authors: Fragala, M
Authors: Robert A. Huggins, Ryan M. Curtis, Andrea R. Fortunati, Maren S. Fragala, Matthew L. Hall, Elaine C. Lee, David P. Looney, Chris A. West, Douglas J. Casa

Specialties: Sports Medicine

Prevalence of Serum 14-3-3η in Juvenile Idiopathic Arthritis

Quest Diagnostics Authors: Naides, SJ
Authors: Iris Reyhan, Olga S. Zhukov, Robert J. Lagier, Robert Bridgforth, Gary J Williams, Joanna M. Popov, Stanley J. Naides and Andreas Reiff

Specialties: Rheumatology/Immunology/Allergy

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14-3-3π(eta) Protein in Juvenile Idiopathic Arthritis

Quest Diagnostics Authors: Naides, SJ
Authors: Tuttle P, Feller L, Zhukov OS, Lagier RJ, Bridgforth R, Williams GJ, Popov J, Naides SJ, Moore T

Specialties: Infectious Disease, Rheumatology/Immunology/Allergy

Confined Placental Trisomy 18 Mosaicism Detected by Maternal Serum and Prenatal cfDNA Screening

Quest Diagnostics Authors: Maxwell, M, Rabin, D, Strom, C
Authors: Carrie Guy, Megan D. Maxwell, James L. Waurin, Arlene M. Buller-Burckle, Douglas S. Rabin, and Charles M. Strom

Specialties: Women's Health/OB/GYN

Confined Placental Trisomy 18 Mosaicism Detected by Maternal Serum and Prenatal cfDNA Screening

Quest Diagnostics Authors: Rabin, D, Strom, C
Authors: Carrie Guy, Megan D. Maxwell, James L. Waurin, Arlene M. Buller-Burckle, Douglas S. Rabin, and Charles M. Strom

Specialties: Women's Health/OB/GYN

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Hemostasis Management and Therapeutic Plasma Exchange: Results of a Practice Survey

Authors: Nicole D. Zantek, Edward Wong, Yanhua Li, Leonard I. Boral, Chisa Yamada, Monica Pagano, Laura Cooling, Marian Rollins-Raval, Amy Schmidt, Roy E. Smith, Annika Svennsson, Jason Crane, YanYun Wu

Specialties: Hematology/Hemostasis/Thrombosis

Clinical Testing for Titin and RyR Autoantibodies in Myasthenia Gravis

Quest Diagnostics Authors: Clarke, NJ, Higgins, JJ
Authors: Amy Goldberger, Keith R. Morneau, Brian G. Sansoucy, Nigel J. Clarke, and Joseph J. Higgins

Specialties: Neurology

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LRP4 Autoimmune Reactivity in a Diverse DSN-Myasthenia Gravis Patient Population

Quest Diagnostics Authors: Clarke, NJ, Higgins, JJ
Authors: Keith R. Morneau, Brian G. Sansoucy, Amy Goldberger, Urzela T. Trela, Nigel J. Clarke, Joseph J. Higgins

Specialties: Neurology

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Analysis of the Repeat Size Distribution of over 82,000 Alleles in the Spinocerebellar Ataxias

Quest Diagnostics Authors: Higgins, JJ
Authors: Zhenyuan Wang, Marc Meservey, Sat Dev Batish, Michelle D. York and Joseph J. Higgins

Specialties: Neurology

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Borderline CNBP CCTG Expansions in Myotonic Dystrophy Type 2 in over 16,000 Specimens Analyzed in a Clinical Laboratory

Quest Diagnostics Authors: Higgins, JJ
Authors: Elise M. Nedzweckas, Rebecca Moore, Marc Meservey, Chanan Moffitt, Carly Parnell, Tara McNamara, Nicholas Tiebout, Zhenyuan Wang, Sat Dev Batish and Joseph J. Higgins

Specialties: Neurology

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Big data approaches to defining HIV transmission dynamics among HIV-infected individuals in the mid-Atlantic United States

Quest Diagnostics Authors: Meyer III, WA
Authors: Seble G. Kassaye, Zehava Grossman, Soo Rhee, William Meyer III, Princy Kumar, David Katzenstein, Frank Maldarelli, Robert Shafer

Specialties: Health Information Technology, Infectious Disease, Rheumatology/Immunology/Allergy

Validation of a Clinically Actionable-Cancer Core Gene Test for Solid Tumors Facilitating Targeted Molecular Therapy and Immunotherapy

Quest Diagnostics Authors: Catanese, J, Hantash, FM, Strom, C
Authors: Ma L, Hua M, Rivera S, Gerasimova A, Nguyen Q, Sunkara S, Lagier R, Smolgovsky A, Wolfson D, Racke F, Strom C, Grupe A, Catanese J, Hantash F

Specialties: Oncology

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Serum Insulin and C-Peptide Levels Identify Insulin Resistance in Apparently Healthy Non-Hispanic Whites

Quest Diagnostics Authors: Devlin, J, McPhaul, MJ
Authors: Abbasi F, Shiffman D, Tong C, James Devlin J, Reaven G, McPhaul M

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

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Mutational Analysis in 46 Pediatric Thyroid Cancer Subjects and Correlations with Age, Ethnicity, and Clinical Presentation

Quest Diagnostics Authors: Hantash, FM, Reitz, R
Authors: Kadakia S, Jiang W, Nikita ME, Cheng S-M, Hantash FM, Newbury RO, Reitz RE, Newfield RS

Specialties: Endocrinology, Diabetes & Metabolism, Oncology

ACTH-Secreting Pheochromocytoma: Report of a Case with Long-Term Follow-up after Adrenalectomy

Quest Diagnostics Authors: McPhaul, MJ
Authors: Panach K, Raisanen J, Carrick KS, McPhaul MJ

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Plasma Free Cortisol Vs. Total Cortisol in Healthy Individuals and in States of High and Low Cortisol Binding Globulin, Including Oral Contraceptive Use, Cirrhosis and Critical Illness: Implications for Diagnosing Adrenal Insufficiency

Quest Diagnostics Authors: McPhaul, MJ, Reitz, R
Authors: Schorr M, Claudia Loures de Assis C, Sims JK, Corey KE, Reitz RE, McPhaul MJ, Miller KK

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism

Suspected Gonadal Mosaicism Identified by Abnormal Prenatal Cell-free DNA Screening in 2 Consecutive Pregnancies

Quest Diagnostics Authors: Buller-Burckle, A, Lacbawan, F, Owen, R, Strom, C, Zhang, K
Authors: Anderson B, Owen R, Zhang K, Buller-Burckle A, Lacbawan FL, Strom CM

Specialties: Women's Health/OB/GYN

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Detection of Fetal Prader-Willi/Angelman Microdeletion and Differentiation of Maternal Distal 15q Deletion by Prenatal Cell-free DNA Screening: Case Report

Quest Diagnostics Authors: Strom, C
Authors: Blazejewski LM, Masiello M, Owen R, Maxwell MD, Guy C, Anderson B, Zhang K, Chen N, Lacbawan FL, Strom CM

Specialties: Women's Health/OB/GYN

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Trisomy 7 Identified by Prenatal cfDNA Screening: Clinical Management Implications

Quest Diagnostics Authors: Blazejewski, L, Lacbawan, F, Maxwell, M, Owen, R, Rabin, D, Strom, C, Zhang, K
Authors: Blazejewski LM, Maxwell MD, Guy C, Anderson B, Owen R, Zhang K, Rabin DS, Lacbawan FL, Strom CM

Specialties: Women's Health/OB/GYN

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

Quest Diagnostics Authors: Lacbawan, F
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

Specialties: Genetics

Atrial Fibrillation Genetic Risk Score and the Burden of Atrial Fibrillation: An ENGAGE AF-TIMI 48 Analysis

Quest Diagnostics Authors: Devlin, J, Shiffman, D
Authors: Ruff CT, Shiffman D, Devlin JJ, Giugliano RP, Antman EM, Trevisan M, Nordio F, Vandell AG, Mercuri M, Sabatine MS

Specialties: Cardiology

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Undiagnosed HIV and HCV in a New York City emergency room, 2015

Quest Diagnostics Authors: Zhang, K
Authors: Torian LV, Felsen U, Xia Q, Rude E, Rose H, Bocour A, Williams GJ, Bridgforth BF, Forgione LA, Zingman BS

Specialties: Infectious Disease

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

Specialties: Cardiology, Genetics

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Prospective Evaluation of a Genetic Risk Score for Atrial Fibrillation in Patients Undergoing Extended Cardiac Rhythm Monitoring

Quest Diagnostics Authors: Devlin, J, Naides, SJ, Wohlgemuth, JG
Authors: Muse ED, Emily Spencer G, Wineinger NE, Peters M, Barrett P, Wohlgemuth J, Devlin J, Shiffman D, Topol EJ

Specialties: Cardiology, Genetics

Glucocorticoid Prophylaxis Inhibits the Hypothalamic-Pituitary-Adrenal Axis in Neonates Undergoing Cardiopulmonary Bypass

Quest Diagnostics Authors: McPhaul, MJ
Authors: Tang A, Rosenfeld CR, Mikhael M, Forbess J, McPhaul MJ, Koch JD

Specialties: Cardiology

Help Me, Help You: Growing Your Practice

Quest Diagnostics Authors: Wilson, K
Authors: Wilson, Kate

Specialties: Genetics

Prospective Analysis of Maternal Duplications Improves Positive Predictive Value in Prenatal Cell-free DNA Screening

Quest Diagnostics Authors: Owen, R, Strom, C, Zhang, K
Authors: Maxwell M, Strom CM, Anderson B, Owen R, Zhang K, Lacbawan F

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

Discordant NIPS Results: A consideration of maternal and fetal incidental findings

Quest Diagnostics Authors: Owen, R, Strom, C, Zhang, K
Authors: Maxwell M, Guy C, Anderson B, Owen R, Zhang K, Lacbawan F, Strom C

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

Adaption of the G.I.F.T Technique as a Qualitative Evaluation Tool for Program Evaluation

Quest Diagnostics Authors: Guy, C
Authors: Guy C, Darden A, Hassed S

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

We can work it out: Hereditary Cancer Test Utilization Management in a Large Commercial Laboratory

Quest Diagnostics Authors: Wilson, K
Authors: Cheng L, Wilson KL, Lammers KY

Specialties: Genetics, Oncology

Religion and Spirituality in Genetic Counseling

Quest Diagnostics Authors: Wilson, K
Authors: Wilson K

Specialties: Genetics

Optimizing Compensation and Professional Advancement In A Genetic Counselor’s Market

Quest Diagnostics Authors: Keiles, S
Authors: Keiles S

Specialties: Genetics

Opening the cfDNA Non-invasive Prenatal Screen Flood-gates: Expansion into the General Population and Its Impact on Industry Counselors, Clinical Providers, and Policy Makers

Quest Diagnostics Authors: Keiles, S
Authors: Maxwell M

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

Double Dipping: Education Research in Diverse Settings

Quest Diagnostics Authors: Guy, C
Authors: Guy C

Specialties: Genetics

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

Specialties: Endocrinology, Diabetes & Metabolism, Genetics

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

Specialties: Cardiology, General Health and Wellness, Genetics

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Impact of risperidone treatment of autistic disorders on metabolic risk factors in children and adolescents

Quest Diagnostics Authors: Kroll, MH
Authors: Srisawasdi P, Vanwong N, Hongkaew Y, Vanavanan S, Intachak B, Ngamsamut N, Limsila P, Sukasem C, Kroll MH

Specialties: Cardiology, Neurology, Pediatrics

Cerebrospinal Fluid Beta Amyloid 40 and 42 Quantitation Using a Novel Stabilization Technique

Quest Diagnostics Authors: Clarke, NJ, Higgins, JJ
Authors: Tran D, Weber DM, Goldman S, Sansoucy B, Albi A, Lynn T, Higgins J, Clarke N

Specialties: Geriatrics/Age Management, Neurology, Pathology, Laboratory Medicine

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

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

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

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

Specialties: Genetics, Neurology, Pediatrics

Zone Size Comparisons of Meropenem maintained at four temperature conditions.

Authors: Rank E

Specialties: Infectious Disease, Pathology, Laboratory Medicine

Validation of Simulated Body Fluid Specimens (SBFS) in Bactec Blood Culture Bottles

Authors: Rank E, Desai H, Patel B

Specialties: Infectious Disease, Pathology, Laboratory Medicine

Molecular Detection and Identification of Acid-Fast Bacteria (AFB) from Formalin-Fixed Paraffin-Embedded (FFPE) Tissues

Authors: Bao JR, Clark RB, Master RN, Shier KL, Eklund LL

Specialties: Infectious Disease, Pathology, Laboratory Medicine

Focus Diagnostics Simplexa™ Bordetella Direct Verification Study

Authors: Chen J, Mai H, Xie Y, Tabb M

Specialties: Infectious Disease, Pathology, Laboratory Medicine

Effect of Incubation at Collection Site on the Rate of Indeterminate Results of Quantiferon®-Tb Gold Samples

Quest Diagnostics Authors: Batterman, HJ, Kapoor, H
Authors: Kapoor H, Edelman A, Batterman HJ

Specialties: Infectious Disease, Pathology, Laboratory Medicine

Pattern of Monogenic Diabetes Test Results from a Large Commercial Testing Laboratory

Quest Diagnostics Authors: Batish, SD, Higgins, JJ, McPhaul, MJ
Authors: McPhaul MJ, Maston GA, Wang Z, Jaremko M, Batish SD, Higgins JJ

Specialties: Endocrinology, Diabetes & Metabolism

OncoKB: Annotation of the oncogenic effect and treatment implications of somatic mutations in cancer.

Quest Diagnostics Authors: Hantash, FM
Authors: Chakravarty D, Phillips SM, Gao JJ, Kundra R, Zhang H, Rudolph JE, Yaeger RD, Soumerai T, Nissan MH, Chandarlapaty S, Traina TA, Paik PK, Loh Ho A, Hantash F, Grupe A, Paraiso E, Ladanyi M, Solit DB, Sabbatini P, Schultz N

Specialties: Health Information Technology, Oncology

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Clinical performance of the Simplexa™ EV & HPeV Direct assay as compared to the Xpert® EV assay for detection of Enterovirus in CSF specimens

Authors: Cheng C

Specialties: Infectious Disease, Neurology, Pathology, Laboratory Medicine

Detection of Norovirus in human stool using the Simplexa™ Norovirus Direct assay

Authors: Huang R

Specialties: Infectious Disease, Pathology, Laboratory Medicine

Focus Diagnostics’ Chikungunya Primer Pair: Specific detection across multiple genotypes and strains

Authors: Geller L, Austria C, Yu B, Gregson H, Martin R, Naranatt P, Tabb M

Specialties: Infectious Disease, Pathology, Laboratory Medicine

Flexible, simultaneous detection of 9 respiratory pathogens using sample-to-answer, real-time pcr assays

Authors: Gregson, J. Granados, R. Martin, H. Mai, Y. Xie, J. Chen, M. Tabb

Specialties: Infectious Disease, Pathology, Laboratory Medicine

Application of a Multiplexed Panel to Characterize Steroid Production in Premature and Full-term Newborns

Quest Diagnostics Authors: Mason, PW, McPhaul, MJ, Nakamoto, JM
Authors: Patrick W. Mason, Michael J. McPhaul, Kathi C. Huddleston, Ramaswamy Iyer, Jon M. Nakamoto

Specialties: Endocrinology, Diabetes & Metabolism, Pediatrics, Toxicology/Pain Management, Women's Health/OB/GYN

What is the Current Value Equation for Dementia Diagnosis and Management: Variation in costs across practice types

Quest Diagnostics Authors: Higgins, JJ
Authors: Wilson L, Bonasera S, Davis M, Balsamo D, Kassan D, Stallone J, Harry J,. Kurzweil PJ, Higgins J, Rankin K, Warsh J, Kaplan R

Specialties: Geriatrics/Age Management, Neurology

Development of an Expert Consensus Approach to Screening, Assessment, and Diagnosis of Patients At Risk for Neurodegenerative Disease

Quest Diagnostics Authors: Agersborg, S
Authors: Rankin K, Possin K, Geschwind M, Kramer J, Ritchie C, Gearhart R, Rabinowitz N, Bonasera S, Brewer J, Carlsson C, Caselli R, Dickerson B, Fong J, Fredericks C, Gelfand J, Grossman M, Hess C, Higgins J, Huey E, Kaufer D, Lanata S, Lee S, Merrilees J, Naasan G, Ng D, Petersen R, Pressman P, Rosen H, Small G, Stern R, Williams M, Yaffe K, Yokoyama J, Miller B

Specialties: Geriatrics/Age Management, Neurology

Development of diagnostic decision tree for rapidly progressive dementia

Authors: Gelfand J, Fredericks C, Rabinowitz N, Rankin K, Hess C, Paoletti M, Higgins J, Williams G, Miller B, Rosen H, Geschwind M

Specialties: Geriatrics/Age Management, Neurology

Analysis of 141 epilepsy related genes in 390 patients using next generation sequencing

Quest Diagnostics Authors: Batish, SD, Evans, M, Higgins, JJ, Hoffman, C, Krasner, M
Authors: Wang Z, Jaremko M, Batish SD, Meservey M, McCarthy M, Medeiros AC, Walsh J, Allen S, Rochibaud N, DiVincenzo C, Casiello T, Bazinet M, Doan D, McCarthy M, Karbassi I, Storozuk V, Kacprzyk M, Liaquat K, Hoffman C, Krasner M, Dodge WA, Evans MC, Elzinga C, York M, Braastad C, Higgins JJ

Specialties: Neurology, Pathology, Laboratory Medicine

Analytical Performance of a Genome-Phenome analyzer in a Clinical Laboratory

Quest Diagnostics Authors: Batish, SD, Higgins, JJ
Authors: Higgins JJ, Wang Z, Jaremko M, Batish SD, York M

Specialties: Genetics, Pathology, Laboratory Medicine

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

Specialties: Genetics, Neurology

The frequency of damaging genetic variants in a cohort of over 1500 patients with Early Onset Familial Alzheimer’s disease

Quest Diagnostics Authors: Higgins, JJ
Authors: Bright A, Karbassi I, Meservey M, Yokoyama J, Rabinowitz N, Bean A, Liaquat K, Gallen M, Hoffman C, Krasner M, Dodge W, Higgins JJ

Specialties: Geriatrics/Age Management, Neurology

14-3-3η, a New Diagnostic Marker- State of the Art.

Quest Diagnostics Authors: Naides, SJ
Authors: Naides S

Specialties: Pathology, Laboratory Medicine, Rheumatology/Immunology/Allergy

Viral nonstructural protein 1 (NS1) stimulates autoimmunity by destruction of self-tolerance

Quest Diagnostics Authors: Naides, SJ
Authors: Puttaraksa K, Pirttinen H, Lagier RJ, Naides SJ, Gilbert L

Specialties: Infectious Disease, Rheumatology/Immunology/Allergy

Validation of a targeted next-generation sequencing test for indeterminate thyroid nodules in a clinical setting

Quest Diagnostics Authors: Barlan, C, Catanese, J, Cheng, S, Hantash, FM, Li, H, Nguyen, Q, Racke, FK, Reitz, R, Sanders, H, Strom, C
Authors: Cheng S, Qu K, Barlan C, Li H, Taylor JF, Grupe A, Wolfson DA, Smolgovsky A, Sanders HR, Gerasimova A, Nguyen Q, Catanese JJ, Strom CM, Racke FK, Waldman FM, Reitz RE, Hantash FM

Specialties: Endocrinology, Diabetes & Metabolism, Oncology, Pathology, Laboratory Medicine

Total and free cortisol levels during 1μg, 25μg and 250μg Cortrosyn Stimulation Tests (CST) compared to Insulin Tolerance Test: the result of a pilot randomized prospective study.

Quest Diagnostics Authors: Clarke, NJ, McPhaul, MJ, Reitz, R
Authors: Peechakara S, Bena J, Clarke N, McPhaul M, Reitz R, Kennedy L, Hamrahian A

Specialties: Endocrinology, Diabetes & Metabolism

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Identification of Circulating IGF-1 Polymorphisms By High Resolution LC-MS

Authors: Wu Z, Sanders HR, Clarke NJ, Caulfield MP, Reitz RE, McPhaul MJ

Specialties: Endocrinology, Diabetes & Metabolism, Pathology, Laboratory Medicine

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Plasma Renin Activity (PRA) by LC-MS/MS—Prevention of Reporting Falsely Low Renin Activities

Quest Diagnostics Authors: Caulfield, MP, Clarke, NJ, McPhaul, MJ, Reitz, R
Authors: Wu Z, Haymond S, Clarke NJ, Caulfield MP, Reitz RE, McPhaul MJ

Specialties: Cardiology, Endocrinology, Diabetes & Metabolism, Pathology, Laboratory Medicine

Intact insulin and C-peptide levels measured by multiplexed mass spectrometry: correlation with fasting glucose in apparently healthy volunteers

Quest Diagnostics Authors: Clarke, NJ, Devlin, J, McPhaul, MJ, Reitz, R, Shiffman, D, Taylor, SW
Authors: Taylor SW, Shiffman D, Devlin JJ, Reitz RE, Clark NJ, McPhaul MJ

Specialties: Endocrinology, Diabetes & Metabolism, Pathology, Laboratory Medicine

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

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

Health Care Seeking Behavior and Provider Responses for HCV-Positive African Americans: National Health and Nutrition Examination Survey 2005-2012

Quest Diagnostics Authors: Bailey, K
Authors: Bailey, Kathleen

Specialties: Gastroenterology, General Health and Wellness, Genetics, Infectious Disease

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

Specialties: Genetics, Hematology/Hemostasis/Thrombosis, Oncology

Analysis of PKD1 and PKD2 Sequencing Variants in Autosomal Dominant Polycystic Kidney Disease

Quest Diagnostics Authors: Batish, SD
Authors: Lapierre J, Batish S, DiVincenzo C, Dubois F, Karbassi I, Love A, Malgorzata J, Maston G, McCarthy M, Meservey M, Wang Z

Specialties: Endocrinology, Diabetes & Metabolism, Gastroenterology, Genetics, Nephrology

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

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

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

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

Increased Identification of CFTR Mutations Using an Expanded Panel of Validated Pathogenic Mutations

Authors: Weimin Sun, Douglas Rabin, Dana Goos-Root, Taraneh Angeloni, Steve Keiles, Jeff Radcliff, Charles Strom

Specialties: Women's Health/OB/GYN

An Automated, Non-Invasive Prenatal Screening Assay (NIPS) for Trisomy 21,18,13 in singleton and twin gestations

Authors: Ben Anderson, Ke Zhang, Quoclinh Nguyen, David Tsao, Yan Liu, Kayla Livingston, Amanda Albi, Chris Elzinga, Weimin Sun, Corey Braastat, Douglas Rabin, Charles Strom

Serum14-3-3eta protein differentiates osteoarthritis from inflammatory arthritis

Authors: S. J. Naides, O. S. Zhukov, J. G. Rivera, R. W. Abolhosn, C. M. Rowland, J. M. Popov, K. D. Michaud

Genital Swab Sample-to Answer Validation Studies Using Focus Diagnostics’ Simplexa™ HSV 1 & 2 Direct Assay

Authors: J. Chen, Y. Xie, H. Mai, D. Jaiswal, M. Tabb

Specialties: Infectious Disease

Focus Diagnostics Simplexa® Bordetella Direct Feasibility Studies assay

Authors: J. Chen, H. Mai, Y. Xie, M. Tabb

Specialties: Infectious Disease

Rapid detection of streptococcus pyogenes using the Simplexa™ group A strep direct assay

Authors: C. Cheng, H. Gregson, R. Huang, B. Torres, M. Tabb

Specialties: Infectious Disease

Simplexa® C. difficile direct—a solution for moderate-complexity labs combining real-time PCR detection with simplified workflow

Authors: E. Huang, A. Bologa, Y. Parocua, S. Miller, R. Martin, S. Dempsey, C. Cheng, R. Humphries, M. Tabb

Specialties: Infectious Disease

E-swabs generate false-positive readings with the GenProbe Group A Streptococcus Detection Kit

Authors: E. L. Rank, K. Dizon, V. Patel, F. Virjee

Focus Diagnostics’ Chikungunya Primer Pair: Specific detection across multiple genotypes and strains

Authors: Geller L, Austria C, Yu B, Gregson H, Martin R, Naranatt P, Tabb M

Specialties: Infectious Disease, Pathology, Laboratory Medicine

Detection of norovirus in raw stool using the Simplexa™ Norovirus Direct Assay

Authors: Peter Lee, Raymond Huang, Kristin Ramos, Maria Vestal, Jules Chen, Michelle Tabb

Specialties: Infectious Disease

Detection of streptococcus pyogenes by the Simplexa® Group A Strep Direct Assay

Authors: Cindy Cheng, Heather Gregson, Brian Yu, Cristina Austria, Louis Geller, Michelle Tabb

Specialties: Infectious Disease

Evaluation of the Simplexa™ EV & HPeV direct assay that detects enterovirus and parechovirus directly from cerebrospinal fluid specimens

Authors: Mahalakshmi Nair, Cindy Cheng, Thanh Mai Dang, Yvette Parocua, Betsabe Torres, Michelle Tabb

Specialties: Infectious Disease

Comparison of Simplexa™ HSV 1 & 2 direct and culture for detection of HSV in genital swab specimens

Authors: Jules Chen, Yuan Xie, Huong Mai, Brian Yu, Cristina Austria, Dipesh Jaiswal, Louis Geller, Michelle Tabb

Variants in the COL6A1, COL6A2, and COL6A3 genes in collagen VI-related congenital muscular dystrophy

Authors: Malgorzata Jaremko, Keith Morneau, Tiffany Smith, Zhenyuan Wang, Funda E. Suer, Carol Hoffman, Khalida Liaquat, Michele McCarthy, Jennifer L. Lapierre, Valerie Storozuk, Marc Meservey, Sat Dev Batish, Joseph Higgins

Specialties: Neurology

Molecular combing compared to southern blot in measuring D4Z4 contractions in FSHD

Authors: Jessica Vasale, Michael Jocson, Fatih Boyar, Khalida Liaquat, Carol Hoffman, Vladimira Sulcova, David Tsao, Kerri C. Hensley, Yan Liu, Patricia Chan, Renius Owen, Corey Braastad, Weimin Sun, Arturo Anguiano, Malgorzata Jaremko, Zhenyuan Wang, Funda E. Sue

Specialties: Neurology

MuSK Autoantibodies in Myasthenia Gravis: Experience with >28,000 Specimens Tested in a Clinical Laboratory

Authors: Amy Goldberger, Brian Sansoucy, Keith Morneau, Kaylan Burnham, Sat Dev Batish, Funda E. Suer, Zhenyuan Wang, Malgorzata Jaremko, Joseph Higgins

Specialties: Neurology

Frequencies of mutations in 20 genes associated with hereditary ataxia: experience from a US clinical laboratory

Authors: Zhenyuan Wang, Marc Meservey, Michele McCarthy, Sat Dev Batish, Malgorzata Jaremko, Funda E. Suer, Joseph Higgins

Specialties: Neurology

The frequency of serum neural autoantibodies in suspected autoimmune epilepsy

Authors: Brian Sansoucy, Malgorzata Jaremko, Kaylan Burnham, Keith Mourneau, Amy Goldberger, Vishal Patel, Zhenyuan Wang, Funda E. Suer, Sat Dev Batish, Joseph J. Higgins

Detection and quantitation of exemestane, letrozole and anastrozole in human serum by LC-MS/MS and atmospheric pressure chemical Ionization

Authors: Julia D. Addiss, Mildred M. Redor-Goldman, Scott M. Goldman, Nigel J. Clarke

Immunometric IGF-1 measurements frequently misclassify clinical samples compared to a mass spectrometry IGF-1 assay

Authors: Vivien Bonert, John David Carmichael, Odelia Cooper, James Mirocha, Richard E. Reitz, Anne L. Caston-Balderrama, Michael John McPhaul, Michael Phillip Caulfield, Shlomo Melmed

Gene-specific Variant Interpretation Guidelines in GCK, HNF1A, and HNF4A: Update from the ClinGen Monogenic Diabetes Expert Panel

Authors: Zhang H, Maloney KA, Skopkova M, Saint-Martin C, Saliganan S, Cano OD, Cosentino R, Letourneau L, Murphy R, Kettunen J, Parikh H, Gasperikova D, Urano F, Richard G, Molnes J , Maston G, Bellanné-Chantelot C, Colclough K, Pollin TI

Specialties: Neurology

Recovery of Filamentous fungi from clinical specimens: Frequency, demography and impact from media

Quest Diagnostics Authors: Bao, J, Clark, R, Jones, RS, Master, R, Shier, K
Authors: Bao, JR, Master, RN, Jones, RS, Clark, RB, Moore, EC, Shier, KL

Specialties: Infectious Disease

Mild Canavan disease presenting with Ocular Migraines and atypical Brain MRI

Quest Diagnostics Authors: Lacbawan, F, Tanpaiboon, P
Authors: Tanpaiboon P, Sharma R, Salazar D, Bonilla-Guerrero R, Lacbawan FL, Asaikar SM

Specialties: Genetics, Neurology

Serendipitous Detection of Maternal Tetrasomy 9p as a Result of Prenatal Cell-free DNA Screening

Quest Diagnostics Authors: Lacbawan, F, Owen, R
Authors: Harper C, Kahl K, Owen R, Anderson BP, Zhang K, Ghaffari G, Kelly JC, Lacbawan FL

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

The Frequency of LRP4 Autoantibodies in Serum Specimens Sent to a Clinical Laboratory for Myasthenia Gravis Testing

Quest Diagnostics Authors: Higgins, JJ
Authors: Dev Batish S, Sansoucy B, Goldberger A, Morneau K, Trela UT, Qeleshi A, Meservey M, Willis J, Katzman E, Beth Noyst B, Gagnon K, Ngo DH, Higgins JJ

Specialties: Neurology

Monitoring Cardiovascular, Hepatic, Renal, And Hematological Markers Of Health In Collegiate Soccer Players

Quest Diagnostics Authors: Fragala, M
Authors: William M. Adams, Robert A. Huggins, Ryan Curtis, Abigail T. Colburn, Andrea R. Fortunati, Matthew L. Hall, Maren S. Fragala, David P. Looney, Elaine C. Lee, Chris A. West, Douglas J. Casa

Specialties: Sports Medicine

Gene mutation frequencies and phenotype correlations in ALS patients tested at a clinical laboratory

Authors: Alison Bright, Izabela D Karbassi, Khalida Liaquat, Carol Hoffman, Marc Meservey, Meagan Krasner, Sat Dev Batish, Joseph J Higgins

Specialties: Neurology

Comprehensive MLPA Analysis of PKD1 and PKD2 Deletions and Duplications in Autosomal Dominant Polycystic Kidney Disease

Authors: Funda E Suer, Everhart Tyran, Malgorzata Jaremko, Zhenyuan Wang, Sat Dev Batish, Gregory Park, Macedo Jenna, Mariola Kacprzyk, Glenn Matson, Kellie Johnson, Jennifer Lapierre, Khalida Liaquat, Carol Hoffman, Valerie Storozuk, Marc Meservey, Joseph J. Higg

Specialties: Neurology

Jumping SHOX gene deletion: an unusual inheritance due to crossover in the pseudoautosomal region of X and Y chromosomes

Authors: Dongli Huang, Emily S. Doherty, Erica Reynolds, Eric D. Smith, Howard Walker, Christina Bess, Viktoria Grauer, Daniel M. Jones, Philip N. Mowrey

Specialties: Women's Health/OB/GYN

Incidence and patterns of ROS1 FISH abnormalities in 648 cases of lung adenocarcinoma

Authors: Jie Xu, Joey C. Kelly, Julie L. Cox, Eric A. Smith, Marc A. Sanidad, Daniel M. Jones, Philip N. Mowrey

BRCA1/BRCA2 mutation analysis by NGS: lack of false-positive results suggests confirmation not required

Authors: Charles M. Strom, Taraneh Angeloni, Corey Braastad, Linda Cheng, Christopher Elzinga, Jamie Platt, David Ross, Martin Siaw, Weimin Sun, Steven Rivera, Sun-hee Rosenthal, Dana Goos-Root

A high-throughput mass spectrometry multiplexed assay to measure insulin and C-peptide

Authors: Steven W. Taylor, Richard E. Reitz, Nigel J. Clarke, Michael John McPhaul