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J. Dlott, MD
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R. Quirey, M.D.
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Batterman
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W. Becker, DO, MPH
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Y. Fesko, MD
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J. Friedman, MD
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Mark Kruzel, MD
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Dr. Damian P. “PAT” Alagia III
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J. Hessling, MD, PhD
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Robert S Jones
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T. Toochinda, MD
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A. Young, MD, PhD
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S. Kabawat, M.D.
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I. Maramica, MD PhD MBA
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M-racke
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Clinical Education Center
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Publications
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2020 Publications
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After the Test Contact Tracing
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A genetic and clinical study of individuals with nonsyndromic retinopathy
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Analytical and Clinical Sample Performance Characteristics of the Onclarity Assay
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An omics perspective on drug target discovery platforms
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Antim llerian hormone and F2 isoprostanes in the Coronary Artery
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A retrospective study on the clinicopathological features of IgG IgA
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A Simple Algorithm for Return to Workplace Employer Antibody Testing
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A sixteen year single center retrospective chart review of Spitz
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Association of ABO Rh with SARS CoV 2 positivity
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Bilateral pulmonary metastases of papillary thyroid carcinoma in a 12
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Changes in the Number of US Patients With Newly Identified
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Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing
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Chlamydia and Gonorrhea Shifting Age Based Positivity Among Young
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Circulating macroprolactin exhibits molecular heterogeneity and is not exclusively an
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Clinical features and laboratory diagnosis of emerging arthropod transmitted viruses
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Cluster of Vacuolated Spinous Keratinocytes A Clue to Cornoid
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Collagenous colitis is associated with hla signature and shares genetic
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Comparison of nonfasting and fasting lipoprotein subfractions and size in
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Concordance of Cardiovascular Risk Factors and Behaviors in a Multiethnic
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Consequences of the COVID 19 Pandemic Reduced Hemoglobin A1c
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Contributions of Liquid Based Papanicolaou Cytology and Human
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Cost effectiveness of nucleic acid amplification testing to guide treatment
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Cutaneous leishmaniasis in a 65 year old North Texas male
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Detection of SARS CoV 2 IgG Targeting Nucleocapsid or Spike
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Development and Validation of a 34 Gene Inherited Cancer Predisposition
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Dig Dis Sci 2020 Nov 13 doi
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Diphthamide deficiency Syndrome A Novel Human Developmental Disorder and
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Disparities in SARS CoV 2 Positivity Rates Associations with
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DNA fragmentation of sperm a radical examination of the
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Effects of 4 Ethanol Sclerosing Injection on Morton s
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Erythema Migrans and Interface Changes More Than a Fortuitous
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ESC EORP Cardiomyopathy Registry real life practice of genetic
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Estimated SARS CoV 2 Seroprevalence in the US as of
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Evaluation of Transport Media and Specimen Transport Conditions for the
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Gaps in Dyslipidemia Care Among Working Aged Individuals With Employer
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Geographic regions with high prevalence of nonalcoholic steatohepatitis related hepatic
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Growth Hormone s Testosterone Insulin Like Growth
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Hidradenitis Suppurativa Associated with Galli Galli Disease Extending the
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Histopathologic features distinguishing secondary syphilis from its mimickers
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Impact of a Digital Diabetes Prevention Program on Risk factors
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Inflammatory dermatoses
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Impacts of Genesurance Considerations on Genetic Counselors Practice and
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Insights from Patterns of SARS CoV 2 Immunoglobulin G Serology
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Intraepidermal Merkel Cell Carcinoma Mimicking Melanoma in Situ A
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Invasive Ductal Carcinoma Arising From an Accessory Nipple
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Knowledge of an inflammatory biomarker of cardiovascular risk leads to
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Linking Statistics With Testing Policy to Manage COVID 19 in
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Localized vitiligo occurring in an old biopsy scar A
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Method Limitations in LC MS MS and Immunonephelometric Measurement of
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Mycoplasma genitalium detection in urogenital specimens from symptomatic and asymptomatic
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Next Generation Sequencing in High Sensitive Detection of Mutations in
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Nuclear NR4A2 Nurr1 Immunostaining is a Novel Marker
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Ocular pseudopemphigoid with concomitant eyelid dermatitis secondary to rosacea
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One Year Effects of Omega 3 Treatment on Fatty Acids
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Outreach and Connection to Care for Chronic Kidney Disease in
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Paroxysmal movement disorder with response to carbamazepine in a patient
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Pattern Analysis of Inflammatory Skin Diseases According to A
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Performance of PCR electrospray ionization mass spectrometry on whole blood
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Performance of the Roche Cobas MTB Assay for the Molecular
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Peripheral Palisading in Melanoma Mimicking Basal Cell Carcinoma A
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Phosphorylated transducer and activator of transcription 3 pSTAT3
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Pooling of Upper Respiratory Specimens Using a SARS CoV 2
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Predictive Value of Pleural Cytology in the Diagnosis of Complicated
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Prevalence of Suspected Direct Oral Anticoagulant Interference on Thrombophilia Testing
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Progressive myoclonus epilepsy caused by a homozygous splicing variant of
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Rare Variants in Genes Associated With Cardiomyopathy Are Not Common
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Rash Associated With Arthritis and Pleuritic Chest Pain Answer
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Rash Associated With Arthritis and Pleuritic Chest Pain Challenge
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Rash on the Chest of a Woman With Lymphadenopathy
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Relationship between DiaSorin Liaison Treponema pallidum antibody indices and confirmatory
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Reply to Comment on Histopathologic features distinguishing secondary
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Return to Work Managing Employee Population Health During the
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Role of Endobronchial Ultrasound guided Transbronchial Needle Aspiration in the
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S3 guideline for actinic keratosis and cutaneous squamous cell carcinoma
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Salivary ghost cell carcinoma case report and proposal of
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Sample Multiplexing Increased Throughput for Quantification of Total Testosterone
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SARS-CoV-2 positivity rates associated with circulating 25 hydroxyvitamin D levels
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SATB2 protein expression by immunohistochemistry is a sensitive and specific
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Seroprevalence of SARS CoV 2 Specific IgG Antibodies Among Adults
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Shorter Drug Testing Intervals Are Associated With Improved Drug Misuse
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Simultaneous Consideration of HbA 1c and Insulin Resistance Improves Risk
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Spontaneous heparin induced thrombocytopenia HIT following curettage and
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Sporadic Oncocytic Tumors with Features Intermediate between Oncocytoma and Chromophobe
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Stomatitis and Hyperpigmented Papules and Plaques in a Patient With
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The Evolving Clinical Testing Landscape of Genomic Aberrations in Solid
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The Opioid Epidemic Within the COVID 19 Pandemic Drug
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The path to a better biomarker application of a
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Therapeutic plasma exchange and intravenous immune globulin in the treatment
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The Rapid Bethesda Assay Is Equivalent to the Standard Bethesda
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ThETA transcriptome driven efficacy estimates for gene based TArget
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Traumatic anserine folliculosis with dermatillomania and trichoteirotillomania
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Viral panniculitis in a patient with disseminated opportunistic Enterovirus infection
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Xanthogranulomatous Epithelial Tumor Report of 6 Cases of a
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X linked myotubular myopathy mimics hereditary spastic paraplegia in two
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2021 publications
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14-3-3 η Protein as a Potential Biomarker in Juvenile Idiopathic Arthritis
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A Diagnostically Challenging Case of Febrile Ulceronecrotic Mucha Habermann Disease
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ALK Rearrangements Characterize 2 Distinct Types of Salivary Gland Carcinomas
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Analytical Validation and Performance Characteristics of a 48 Gene Next-generation Sequencing Panel for Detecting Potentially Actionable Genomic Alterations in Myeloid Neoplasms
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A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype
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Antibody Affinity Maturation and Plasma IgA Associate With Clinical Outcome in Hospitalized COVID-19 Patients
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Antimicrobial Resistance Patterns of Urinary Escherichia coli Among Outpatients in Washington State 2013 2017 Associations with Age and Sex
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Arginine to Ornithine Ratio as a Diagnostic Marker in Patients With Positive Newborn Screening for Hyperargininemia
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Assessing Comfort Level With Pediatric Skin Specimens Among Dermatopathologists and Pediatric Pathologists: A National Cross-sectional Survey
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Assessment of the Association of Vitamin D Level With SARS CoV 2 Seropositivity Among Working Age Adults
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Association of CETP Gene Variants with Atherogenic Dyslipidemia Among Thai Patients Treated with Statin
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Association of Circulating Sex Hormones With Inflammation and Disease Severity in Patients With COVID-19
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Association of SARS-CoV-2 Seropositive Antibody Test With Risk of Future Infection
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A STAT3 Inhibitor Ameliorates CNS Autoimmunity by Restoring Teff:Treg Balance
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Asymptomatic Pink Nodules on a 28-Year-Old Patient
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Biallelic Loss-of-Function in NRAP Is a Cause of Recessive Dilated Cardiomyopathy
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Biochemical Diagnosis of Acute Hepatic Porphyria Updated Expert Recommendations for Primary Care Physicians
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CDK19-Related Disorder Results From Both Loss-of-Function and Gain-of-Function De Novo Missense Variants
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Changes in Test Volumes During Coronavirus Disease 2019 (COVID-19): A Laboratory Stewardship Opportunity
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Decreases in Hepatitis C Testing and Treatment During the COVID-19 Pandemic
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Diagnostic Performance of Artificial Intelligence for Histologic Melanoma Recognition Compared to 18 International Expert Pathologists
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Diagnostic Yield of Genetic Testing in a Heterogeneous Cohort of 1376 HCM Patients
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Elemental Testing Using Inductively Coupled Plasma Mass Spectrometry in Clinical Laboratories
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Evolution of Specimen Self-Collection in the COVID-19 Era: Implications for Population Health Management of Infectious Disease
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Expanding the Genotypic and Phenotypic Spectrum in a Diverse Cohort of 104 Individuals With Wiedemann-Steiner Syndrome
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Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability speech delay and dysmorphism
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High-Resolution Targeted Bisulfite Sequencing Reveals Blood Cell Type-Specific DNA Methylation Patterns in IL13 and ORMDL3
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Impact of the COVID 19 Pandemic on Chlamydia and Gonorrhea
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Microsecretory Adenocarcinoma of Salivary Glands: An Expanded Series of 24 Cases
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Model for Mitigation of Workplace Transmission of COVID-19 Through Population-Based Testing and Surveillance
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Multifocal Langerhans Cell Histiocytosis: A Unique Presentation of Eosinophilic Granuloma With Intracranial Extension, Massive Lymphadenopathy, and Epstein-Barr Viral Infection in an Adolescent Female
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New Onset Granulomatosis with Polyangiitis Associated with COVID-19
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Novel Variant Findings and Challenges Associated With the Clinical Integration
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Opinion: Standardizing Gene Product Nomenclature-A Call to Action
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Performance of Unobserved Self-collected Nasal Swabs for Detection of SARS-CoV-2 by RT-PCR Utilizing a Remote Specimen Collection Strategy.
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Pharmacological Treatment of Severe Breathing Abnormalities in a Case of HNRNPU Epileptic Encephalopathy
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Prenatal Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia: Fetal Magnetic Resonance Imaging Phenotypes, Genetic Diagnoses, and Outcomes
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Prevalence and Significance of Serum 14-3-3η in Juvenile Idiopathic Arthritis
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Prognostic Implications of the Immune Tumor Microenvironment in Patients With Pancreatic and Gastrointestinal Neuroendocrine Tumors
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Progressive Myoclonus Epilepsies-Residual Unsolved Cases Have Marked Genetic Heterogeneity Including Dolichol-Dependent Protein Glycosylation Pathway Genes
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Radiotherapy Before or During Androgen-Deprivation Therapy Does Not Blunt the Exercise-Induced Body Composition Protective Effects in Prostate Cancer Patients: A Secondary Analysis of Two Randomized Controlled Trials
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Relationship Between Hepatitis C Virus (HCV) IgG Index Values and Quantitative HCV RNA Results in HCV IgG-Reactive Serum Samples
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Response to Brentuximab Vedotin Versus Physician’s Choice by CD30 Expression and Large Cell Transformation Status in Patients With Mycosis Fungoides: An ALCANZA Sub-Analysis
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The Complete Genome Sequence of Listeria monocytogenes Strain S2542 and Expression of Selected Genes Under High-pressure Processing
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Two Adult Cases of Multisystem Inflammatory Syndrome Associated with SARS
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Variant Re-interpretation in Survivors of Cardiac Arrest with Preserved Ejection Fraction (CASPER Registry) by Clinicians and Clinical Commercial Laboratories
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Why Is the Histomorphological Diagnosis of Tumours of Minor Salivary Glands Much More Difficult?
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Workplace Mental Health: Application of a Population Health Approach of Proactive Screening to Identify Risk and Engage in Care
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Changes in Newly Identified Cancer Among US Patients From Before COVID-19 Through the First Full Year of the Pandemic
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Contributions of Glucose and Hemoglobin A1c Measurements in Diabetes Screening
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The Role of Circular RNAs in Keratinocyte Carcinomas
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iciHHV-6 in a Patient With Multisystem Inflammatory Syndrome in Children (MIS-C)
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Isotopic Peak Index, Relative Retention Time, and Tandem MS for Automated High Throughput IGF-1 Variants Identification in a Clinical Laboratory
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An Insulin Resistance Score Improved Diabetes Risk Assessment in the Malmö Prevention Project-A Longitudinal Population-Based Study of Older European
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Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates
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A Grammastola spatulata mechanotoxin-4 (GsMTx4)-sensitive cation channel mediates increased cation permeability in human hereditary spherocytosis of multiple genetic etiologies
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Variant Re-interpretation in Survivors of Cardiac Arrest with Preserved Ejection Fraction (CASPER Registry) by Clinicians and Clinical Commercial Laboratories
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E/M Coding in 2021: The Times (and More) Are A-Changin'
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Generalised eruptive histiocytosis preceded by systemic symptoms
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Recovery and Its Dynamics of Filamentous Fungi from Clinical Specimen Cultures: An Extensive Study
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Elevated Rates of Indeterminate Results on QuantiFERON®-TB Gold Plus in COVID-19 Patients
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A multi-center retrospective cohort study defines the spectrum of kidney pathology in Coronavirus 2019 Disease (COVID-19)
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Strategies for laboratory professionals to drive laboratory stewardship
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Identification of 22 novel BTK gene variants in B cell deficiency with hypogammaglobulinemia
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Intact Fasting Insulin Identifies Nonalcoholic Fatty Liver Disease in Patients Without Diabetes
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HMGA2-WIF1 Rearrangements Characterize a Distinctive Subset of Salivary Pleomorphic Adenomas With Prominent Trabecular (Canalicular Adenoma-like) Morphology
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Chlamydia trachomatis and Neisseria gonorrhoeae in Pregnancy: Trends in United States, 2010-2018
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Retrospective Performance Analyses of over Two Million U.S. QuantiFERON Blood Sample Results
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Trichomonas vaginalis detection in urogenital specimens from symptomatic and asymptomatic men and women using the cobas TV/MG test
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Ominous-appearing papulonodules in the genitocrural area
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Mitomycin extravasation injury: A case series
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Time of onset and duration of post-COVID-19 acute telogen effluvium
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Rapidly growing asymptomatic violaceous nodule
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Melanoma mimicking atypical fibroxanthoma: Report of an unusual case
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Acquired Perforating Dermatosis Induced by PD-1 Inhibitor: A Case Report
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Bullous drug eruption after second dose of mRNA-1273 (Moderna) COVID-19 vaccine: Case report
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Atypical presentation of pediatric antiphospholipid syndrome
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Differentiating Pemphigus Foliaceus From Pemphigus Vulgaris in Clinical Practice
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Skin cancer classification via convolutional neural networks: systematic review of studies involving human experts
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Antibody-Free Quantification of Serum Chromogranin A by Targeted Mass Spectrometry
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Intact Fasting Insulin Identifies Nonalcoholic Fatty Liver Disease in Patients Without Diabetes
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Patterns of Prostate Specific Antigen (PSA) Testing and Prostate Biopsy During the Coronavirus Disease 2019 Pandemic
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Association of Changes in Lipid Levels with Changes in Vitamin D Levels in a Real-world Setting
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Analysis of the reported use of practice-based competencies by North American genetic counselors during the COVID-19 pandemic
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Individual and Community-Level Factors Associated With Detectable and Elevated Blood Lead Levels in US Children: Results From a National Clinical Laboratory
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Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis
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Limbic encephalitis in a child with ovarian teratoma and influenza B. Case report and critical review of the history of autoimmune anti-N-methyl-d-aspartate receptor encephalitis
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Rash on the Chest of a Woman With Lymphadenopathy: Challenge.
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Rash on the Chest of a Woman With Lymphadenopathy: Answer.
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Viral dynamics of acute SARS-CoV-2 infection and applications to diagnostic and public health strategies
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Notes From the Field: Testing for Nonprescribed Fentanyl and Percentage of Positive Test Results Among Patients with Opioid Use Disorder — United States, 2019–2020
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Trpv1 and Trpa1 are not essential for Psickle-like activity in red cells of the SAD mouse model of sickle cell disease
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Bone Marrow Collection
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Variant Reinterpretation in Survivors of Cardiac Arrest With Preserved Ejection Fraction (the Cardiac Arrest Survivors With Preserved Ejection Fraction Registry) by Clinicians and Clinical Commercial Laboratories
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Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia
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Infantile-Onset Charcot-Marie-Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Literature
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Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation Methods
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Coalescing plaques on the face, trunk, and upper extremities
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Generalized dermal hypersensitivity reaction following Moderna COVID-19 vaccination
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Vulvar Lymphangioma Circumscriptum Secondary to Crohn Disease
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Primary Cutaneous Follicle Center Lymphoma with Aberrant CD8 expression
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Multicenter Clinical Evaluation Of ETEST® Plazomicin (PLZ) For Susceptibility Testing of Enterobacterales
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COVID-19 Vaccination Reactogenicity in Persons With Multiple Sclerosis
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Rise in Blood Pressure Observed Among US Adults During the COVID-19 Pandemic
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Personalized medicine of non-gene-specific chemotherapies for non-small cell lung cancer
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Genetic testing for the epilepsies: A systematic review
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National Kidney Foundation Laboratory Engagement Working Group Recommendations for Implementing the CKD-EPI 2021 Race-Free Equations for Estimated Glomerular Filtration Rate: Practical Guidance for Clinical Laboratories
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Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study
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Workplace Outreach Program Improves Management of Chronic Kidney Disease
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Kaposi sarcoma: What to do with a negative human herpesvirus 8 immunohistochemical stain?
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SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review
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GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy
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Evaluation of a Case Series of Patients With Palmoplantar Pustulosis in the United States
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Evaluation of a Case Series of Patients With Generalized Pustular Psoriasis in the United States
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LC-MS lipidomics of renal biopsies for the diagnosis of Fabry disease
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2022 Publications
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Transience of interference in an immunoassay measuring serum levels of beta-D-glucan
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High Prevalence of Subnormal Testosterone in Obese Adolescent Males: Reversal with Bariatric Surgery
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Pain in Multiple Sclerosis: Understanding Pathophysiology, Diagnosis, and Management
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Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era
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Early Detection in Childhood Lead Exposure Relies on Timely Testing-Reply
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Characterization of serum samples with discordant results in two herpes simplex virus type 2 (HSV-2) IgG assays
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Erythema multiforme reactions after Pfizer/BioNTech (BNT162b2) and Moderna (mRNA-1273) COVID-19 vaccination: A case series
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Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients
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Unique correlation between GTF2I mutation and spindle cell morphology in thymomas (type A and AB thymomas)
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Monogenic gene variants in lung transplant recipients with usual interstitial pneumonia
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Deconvolution microscopy: A platform for rapid on-site evaluation of fine needle aspiration specimens that enables recovery of the sample
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Development and validation of a high throughput SARS-CoV-2 whole genome sequencing workflow in a clinical laboratory
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Large-scale retrospective analyses of the effect of iron deficiency anemia on hemoglobin A1c concentrations
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Purinergic signaling is essential for full Psickle activation by hypoxia and by normoxic acid pH in mature human sickle red cells and in vitro-differentiated cultured human sickle reticulocytes
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The long-term health consequences of COVID-19
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Laboratory Supply Shortages: Turning Crisis to Opportunity
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Using the Merlin assay for reducing sentinel lymph node biopsy complications in melanoma: a retrospective cohort study
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Erythroid-specific inactivation of Slc12a6/Kcc3 by EpoR promoter-driven Cre expression reduces K-Cl cotransport activity in mouse erythrocytes
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Novel mutation in cutaneous oncocytoma identified by next-generation sequencing
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Multicenter Evaluation of the Simplexa VZV Direct Assay for Detection of Varicella-Zoster Virus in Cerebrospinal Fluid and Lesion-Swab Specimens
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Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability
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A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes
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Mutational analysis using next generation sequencing in pediatric thyroid cancer reveals BRAF and fusion oncogenes are common
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Dysregulated Erythroid Mg 2+ Efflux in Type 2 Diabetes
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Duration of West Nile Virus Immunoglobulin M Antibodies up to 81 Months Following West Nile Virus Disease Onset
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The small HDL particle hypothesis of Alzheimer's disease
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Association between liver and chronic kidney disease on hemoglobin A1c concentrations
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Changes in ganglioside antibody positivity rates during the COVID-19 pandemic
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Current State of Pediatric Reference Intervals and the Importance of Correctly Describing the Biochemistry of Child Development: A Review
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Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
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A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign
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A case of vasculitis after paclitaxel drug-coated balloon angioplasty
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Severe topical corticosteroid withdrawal syndrome or enigmatic drug eruption?
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FAQ
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Alpha Globin Gene Deletion or Duplication
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Alpha Globin Gene Sequencing
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FISH Angelman
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Beta Globin Complete
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Cystic Fibrosis Screen
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Chromosome Analysis Blood
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Cytomegalovirus CMV and Epstein Barr Virus EBV PCR
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Coxsackie B 1 6 Antibodies Serum
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Familial Mediterranean Fever Mutation Analysis
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Anti PF4 and Serotonin Release Assay SRA for Diagnosing Heparin induced Thrombocytopenia Thrombosis HIT HITT
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von Willebrand Comprehensive Panel
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Beta Lactamase Detection Comprehensive Gram negative Bacteria Panel
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Drug Testing General Toxicology Blood Urine or Serum
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Myelodysplastic Syndrome MDS Mutations Sequencing
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Myeloproliferative Neoplasm Mutations without BCR ABL JAK2 and MPL
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Prothrombin Time With INR
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Hepatitis B Surface Antibody Quantitative
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HIV 1 2 Antigen and Antibodies Fourth Generation with Reflexes
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Culture Urine Routine
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Chlamydia trachomatis Neisseria gonorrhoeae DNA SDA
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Antiphospholipid Antibodies
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Culture Fungus
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ABO Group and Rh Type
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ADAMTS13 Activity with Reflex to ADAMTS13 Inhibitor
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ABL Kinase Domain Mutation in CML Cell based
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Serum Pregnancy Tests
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Microalbumin Urinary Albumin Excretion
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Influenza A and B Antigen Immunoassay
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Varicella Zoster Virus Antibody IgG
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Herpes Simplex Virus HSV Type Specific IgG Antibodies
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BRCA Panel BRCA1 BRCA2
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BRCA Ashkenazi Jewish Screen
-
BRCAvantage Rearrangements
-
B cell and T cell Clonality Assays by PCR
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B Type Natriuretic Peptide BNP
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HPV mRNA E6 E7
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PTH Intact and Calcium
-
Hepatitis C Viral RNA NS3 Drug Resistance
-
Carbapenem Resistant Enterobacteriaceae Culture Screen
-
Cardio IQ sup sup Lipoprotein Fractionation Ion Mobility
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HIV 1 Integrase Genotype
-
em Clostridium difficile em Diagnostic Testing
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TSH
-
PIK3CA Mutation Analysis
-
ASCVD Risk Panel with Score
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Tamoxifen and Metabolites LC MS MS
-
CFvantage Cystic Fibrosis Expanded Screen
-
Melanoma BRAF V600E and V600K Mutation Analysis THxID
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D-Dimer Quantitative
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NAFLD Fibrosis Score
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FISH Myeloma 17p rea 14q32 with Reflexes
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Chlamydia trachomatis Neisseria gonorrhoeae RNA TMA
-
Alcohol Metabolites Quantitative Urine
-
Partial Thromboplastin Time Activated aPTT
-
SureSwab Candidiasis PCR
-
Measles
-
LDL Cholesterol Calculations
-
Testosterone Testing
-
QNatal sup sup Advanced
-
Zinc Transporter 8 ZnT8 Antibody
-
Dengue Virus Testing
-
Insulin Intact LC MS MS
-
Hepatitis C Viral RNA Genotype 1 NS5A Drug resistance
-
Hepatitis C Viral RNA Genotype 3 NS5A Drug Resistance
-
em CDH1 em Sequencing and Deletion Duplication
-
Tests for Autoimmune Diseases
-
Zika and Other Emerging Viruses Transmitted by em Aedes em Mosquitos
-
Levetiracetam
-
em Streptococcus pneumoniae em Pneumococcal Antibody Tests
-
Drug Toxicology Alcohol Metabolite with Confirmation Oral Fluid
-
Drug Toxicology Monitoring Oral Fluid Testing
-
Drug Monitoring Antidepressants With Confirmation Urine and Serum
-
Apixaban
-
PD L1
-
Pain Management Antipsychotics With Confirmation Serum and Urine
-
Hepatitis B Surface Antigen Quantitative Monitoring
-
em TP53 em Sequencing and Deletion Duplication
-
Hepatitis C Antibody with Reflex to HCV RNA PCR with Reflex to Genotype
-
Platelet Antibody Screen Indirect
-
Familial Hypercholesterolemia FH Panel
-
Familial Hypercholesterolemia FH Single Site
-
HIV 1 Resistance Proviral DNA RTI PI Integrase Inhibitors
-
Vitamin D Testing
-
HIV Pre exposure Prophylaxis PrEP Testing
-
Infliximab and Adalimumab Drug and Anti drug Antibody Testing
-
Biotin Interference with Laboratory Assays
-
Diagnosis of Intestinal Parasites
-
QuantiFERON TB Gold Plus
-
CardioIQ sup sup Insulin Resistance Panel with Score
-
Pharmacogenomics Panel
-
LeukoVantage Myeloid Neoplasm Mutation Panels
-
Factor VIII Activity Clotting
-
Myeloproliferative Neoplasm Diagnosis Molecular Evaluation
-
Cytomegalovirus CMV IgG avidity
-
T-SPOT®.TB
-
Hereditary Cancer Single Site s
-
Comprehensive Hereditary Cancer Panel
-
Hereditary Colorectal Cancer Panel
-
SARS CoV 2 Antibody Testing
-
Donor Testing
-
em FLT3 em Mutation Analysis
-
Porphyria Testing
-
Lyme Disease Testing
-
APC Sequencing and Deletion Duplication
-
BRCA Ashkenazi Jewish Screen with Reflex to BRCA Panel BRCA1 BRCA2
-
Hepatitis C Virus Antibody and RNA Testing
-
BRCA Panel Plus
-
BRCA1 and BRCA2 Deletion Duplication
-
CDH1 Sequencing and Deletion Duplication
-
em CHEK2 em Sequencing and Deletion Duplication
-
Guideline based Hereditary Cancer Panel
-
Hereditary Breast Cancer Panel
-
Hereditary Endocrine Cancer Panel
-
Juvenile Polyposis Panel BMPR1A and SMAD4
-
Li Fraumeni Syndrome TP53 Sequencing and Deletion Duplication
-
Lynch Syndrome Panel
-
Lynch Syndrome em MLH1 em Sequencing and Deletion Duplication
-
Lynch syndrome em MSH2 em Sequencing and Deletion Duplication Including EPCAM
-
Lynch Syndrome em MSH6 em Sequencing and Deletion Duplication
-
Lynch Syndrome em PMS2 em Sequencing and Deletion Duplication
-
em MEN1 em Sequencing and Deletion Duplication
-
Alpha Globin Common Mutation Analysis
-
em MUTYH em Sequencing and Deletion Duplication
-
Nevoid Basal Cell Carcinoma NBCCS Gorlin Syndrome Panel em PTCH1 SUFU em
-
em NF1 em Sequencing and Deletion Duplication
-
em PALB2 em Sequencing and Deletion Duplication
-
em PTEN em Sequencing and Deletion Duplication
-
em RET em Sequencing and Deletion Duplication
-
em STK11 em Sequencing and Deletion Duplication
-
Tuberous Sclerosis Complex Panel em TSC1 TSC2 em
-
em VHL em Sequencing and Deletion Duplication
-
Chromosomal Microarray Prenatal ClariSure Oligo SNP
-
Chromosome Analysis and AFP with Reflex to AChE Fetal Hgb Amniotic Fluid
-
Chronic Lymphocytic Leukemia CLL Diagnostic and Prognostic Testing
-
PNH with FLAER High Sensitivity
-
Mercury
-
Procalcitonin
-
Chromosome Analysis Amniotic Fluid
-
First Trimester Screen hCG
-
Heparin Anti Xa
-
C1 Inhibitor Protein and Functional Tests
-
Cervical Cancer TERC FISH
-
XSense sup reg sup Fragile X with Reflex and Chromosome Analysis Blood
-
T4 Free
-
Acid Fast Bacillus AFB Identification Sequencing and Stain Paraffin Block
-
Factor V Leiden Mutation Analysis
-
Methylenetetrahydrofolate Reductase MTHFR DNA Analysis
-
Chromosome Analysis High Resolution
-
Chromosome Analysis Mosaicism
-
Chromosome DEB Assay for Fanconi anemia
-
Chromosome Analysis Sister Chromatid Exchange
-
BCR ABL1 Gene Rearrangement Quantitative PCR
-
Herpes Simplex Virus Type 2 (HSV-2) IgG Inhibition Assay
-
Maternal Serum AFP
-
Chromosome Analysis Neonatal Blood
-
Chromosome Analysis Chorionic Villus Sample
-
Chromosome Analysis Tissue
-
Chromosome Analysis Blood with Reflex to Postnatal ClariSure sup reg sup Oligo SNP Array
-
Chromosome Analysis High Resolution with Reflex to Postnatal ClariSure sup reg sup Oligo SNP Array
-
Chromosomal Microarray Postnatal ClariSure sup reg sup Oligo SNP
-
Chromosomal Microarray POC ClariSure sup reg sup Oligo SNP
-
First Trimester Screen Hyperglycosylated hCG h hCG
-
Triple Screen
-
FISH MET Amplification
-
Stepwise Part 1
-
HIV 1 Coreceptor Tropism Ultradeep Sequencing
-
HIV 1 Coreceptor Tropism Proviral DNA
-
Dementia Secondary Causes
-
Sequential Integrated Screen Part 1
-
Integrated Screen Part 1
-
Serum Integrated Screen Part 1
-
Integrated Screen Part 2
-
Serum Integrated Screen Part 2
-
Sequential Integrated Screen Part 2
-
Stepwise Part 2
-
Rivaroxaban
-
Quad Screen
-
Penta Screen
-
Sickle Cell Screen
-
XSense Fragile X with Reflex Test
-
Hepatitis C Viral RNA Genotype LiPA
-
Hereditary Hemochromatosis DNA Mutation Analysis
-
Intrinsic Factor Blocking Antibody
-
Influenza Type A and B Antibodies
-
Lupus Anticoagulant LA Evaluation with Reflex
-
Metanephrines Fractionated Free LC MS MS Plasma
-
FISH Prenatal Screen
-
FISH Prader Willi
-
Saccharomyces cerevisiae Antibodies ASCA IgG IgA
-
Total Testosterone LC MS MS
-
SureSwab Trichomonas vaginalis RNA Qualitative TMA
-
Chromogranin A Testing
-
SMARCA4 Sequencing and Deletion/Duplication
-
MITF Gene Analysis
-
HOXB13 Sequencing and Deletion/Duplication
-
FLCN Sequencing and Deletion/Duplication
-
FH Gene Sequencing and Deletion/Duplication
-
CDKN2A Sequencing and Deletion/Duplication
-
BLM Sequencing and Deletion/Duplication
-
BAP1 Sequencing and Deletion/Duplication
-
ATM Sequencing and Deletion/Duplication
-
Isocitrate Dehydrogenase 1 and 2 (IDH1/IDH2) Mutation Analysis (IDH1 and IDH2 Mutation)
-
Follicular Lymphoma, EZH2 Mutation, COBAS
-
Kidney Profile
-
Mycoplasma genitalium
-
HBV screen panel with reflexes
-
Solid Tumor Core Panel
-
Solid Tumor Expanded Panel
-
CKD-EPI Creatinine Equation (2021) for Creatinine-based eGFR
-
Webinars
-
2015
-
2016
-
Laboratory Testing in the Diagnosis and Management of Rheumatoid Arthritis (RA) and Psoriatic Arthritis (PsA)
-
2017
-
2018
-
2019 webinars
-
Beyond the hype: Where genomics is having an impact on outcomes
-
Detecting and Managing Insulin Resistance
-
Genetic Testing: When should you consider testing beyond BRCA?
-
Harnessing Advances for Improving Exome
-
Improving Cardiovascular Health for Women: The Essentials for Every OB/GYN Practice
-
Long-term Successes of Biomarker Testing
-
Monitoring of Myeloid Malignancies in the Era of Next Generation Sequencing
-
Moving New Diagnostics into the Clinic in the 21st Century
-
Optimizing for High-Level Performance
-
Screening for Sexually Transmitted Infections
-
Taking a Sexual History
-
The Link Between Gut Health and Cardiovascular Disease
-
Tick-borne Illness: An expert overview of when to test
-
Which of your patients should be offered genetic testing for cancer risk in 2019?
-
Women and Cardiometabolic Health: Impact of Chronic Medical Conditions
-
2020 webinars
-
A Clinical View on Diagnostics Strategies for Sexually Transmitted Infections
-
Addressing a Public Health Crisis: Applications for COVID-19 Antibody Testing
-
Biomarker Testing as a Preventive Health Strategy
-
Cardiovascular Clinical Conversations: Inflammatory Markers for Defining Cardiovascular Risk
-
Cardiovascular Clinical Conversations: Understanding the Function of HDL—Beyond Its Levels
-
Education for Testing Fertility Patients During COVID-19
-
Hepatitis C: Implementing the New Guidelines During the Pandemic
-
Hypercoagulable State Associated With COVID-19 Infection
-
Latest Developments in COVID-19 Testing: An Update for Community Health Centers
-
Neurological Complications of COVID-19
-
Next-Generation Immunohistochemistry: A Window Onto the Molecular Alterations in Tumors
-
Overlapping Symptoms of Respiratory Infections and COVID-19—What You Need to Know
-
Social Distancing, Tick Borne Disease and COVID-19: What They Have in Common
-
Testing for COVID-19: What You Need to Know
-
Testing for COVID-19: What You Need to Know – June 24 Update
-
Testing for COVID-19: What You Need to Know – June 8 Update
-
Women and Heart Disease: Is There Really a Sex Difference?
-
2021 webinars
-
Is it a Food Allergy? Solving the Diagnostic Dilemma of Food Allergy
-
Biomarker Testing in Alzheimer’s Disease
-
Autoimmune Testing Essentials in Primary Care to Guide Rheumatology Referrals
-
Combating COVID-19 – Monoclonal Antibody Therapies to Optimize Patient Care
-
KRAS G12C Mutation: An Emerging Biomarker for NSCLC
-
Myasthenia Gravis: How Antibody Testing Helps you in the Management of Your Patient
-
Racial Disparities in Women s Heart Health A Prevention Focused Approach
-
The Association Between Vitamin D Levels and COVID-19 Positivity—and More
-
Hereditary Cancer Care Starts in Primary Care
-
Is it an Environmental Allergy? The Role of Serum IgE Testing in the Primary Care and Pediatric Setting
-
The Continuum of Kidney Disease Care: From Identification to referral
-
SARS-CoV-2: Finding the New Normal— A Diagnostic Perspective
-
Tick-borne Illness: A Panel Discussion About Emerging Diagnostic Insights
-
Drug Monitoring Webinar: Presumptive vs Definitive Drug Testing: What Are We Missing?
-
HBV Webinar: From Screening to Functional Cure
-
Lab Testing for Overlapping Rheumatic Diseases: A Comprehensive Approach
-
Surviving Somatic Sequencing: a Straightforward Start to a Strange Space
-
2022 webinars
-
Rethinking the Basics of Post-transplant Infections
-
The Emerging Role of Blood-based Biomarkers in Alzheimer's Disease
-
Drug Monitoring Webinar: Contributing Factors into the Skyrocketing Drug Misuse Epidemic in the US
-
Interpretation of Respiratory Allergy Results for Patient Management
-
Conference Presentations
-
2020 conference presentations
-
A bioinformatics pipeline for selecting and detecting hotspot variants in
-
A Blat variant caller that uses breakpoint detection to find
-
A method to improve genetic diagnostic yield among patients suspected
-
Analytical validation of a SARS CoV 2 whole genome sequencing
-
A New Clinical Exome Assay Developed for the High Throughput
-
A Novel Multimodal Decomposition Statistical Method for Generating Alkaline Phosphatase
-
Anti Xa assays For the Determination of Therapeutic Unfractionated Heparin
-
A Retrospective Study of Product of Conception with more than
-
Assessment of urinary buprenorphine norbuprenorphine and naloxone concentrations in
-
Association of high AST and ALT values on Hemoglobin A1c
-
Attainment of LDL C Goals Is Associated with Measures of
-
Breast cancer in PMS2 positive patients
-
Candida Auris Antifungal Susceptibility Results in Clinical Isolates
-
Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing
-
Comparison of variants identified by next generation sequencing panels
-
Detection of actionable alterations in breast and ovarian tumor tissues
-
Diagnosis of porphyrias by fractionated urine or plasma porphyrins
-
Digital Diabetes Prevention Program Reduces Medical Costs in the First
-
Distribution of mutations associated with congenital myasthenic syndromes CMS
-
Drug Misuse in America 2019 Physician Perspectives and Diagnostic
-
Educating the Genomics Community about the Updated ACMG ClinGen Technical
-
Enhancement of spinal muscular atrophy carrier screening with unique variants
-
Evaluating diagnostic challenges with ABCA4 related retinal disease
-
Exome testing improves diagnosis in case of individual presenting with
-
Frequencies and patterns of deleterious variants in the largest cohort
-
Frequency and characteristics of copy number variants identified by a
-
Frequency of 5 Cancer Types in Families with a Pathogenic
-
Frequency of Incidental Maternal Mosaic and Variant Turner Syndrome Detected
-
Gene specific Variant Interpretation Guidelines in GCK HNF1A
-
Highly specific copy number variant flagging algorithm using next generation
-
HIV 1 Integrase Next Generation Sequencing of Proviral DNA Compared
-
Identification of IGF 1 variants in a clinical study of
-
Incidental findings involving cancer susceptibility genes detected by germline chromosomal
-
Increasing odds of resistance for subsequent urinary E coli
-
Individuals with metabolic syndrome and unrecognized sleep apnea can be
-
L Alloisoleucine Levels in a Case Series of Patients With
-
Large Scale Retrospective Analyses of the Effect of Iron Deficiency
-
Lower indeterminate rates using single lithium heparin tube blood collection
-
Moving in the fast lane test design and validation
-
Mycoplasma genitalium Trends among Men and Women in a National
-
Myelin oligodendrocyte glycoprotein MOG antibodies results from
-
Plazomicin Susceptibility Testing using ETEST MIC for Enterobacterales
-
Practical tool for coverage metrics standardization for disparate variant call
-
Prenatal Cell Free DNA Screening for 22q11 2 Deletion Syndrome
-
Prenatal Theoretical Diagnostic Yield of a Rapid Targeted Genetic
-
Retrospective Analysis of 25 000 Rare Disease Patients Confirms
-
Risk of Type 2 Diabetes Is Reduced in the Second
-
Sequential Testing to Assess Insulin Resistance in the Course of
-
Sex Discordance, Chimerism, and Disorders of Sexual Development in Monochorionic Twins Conceived with Assisted Reproductive Technology
-
STI Testing Beyond Chlamydia trachomatis Neisseria gonorrhea
-
The Crisis Within the Crisis Fentanyl Abuse and COVID
-
The Diagnosis and Treatment of Ethylene Glycol Poisoning
-
The Dual Laboratory Faces of Porphyria Cutanea Tarda
-
T SPOT TB Assay Using Extended Stored Blood Samples
-
Two Year Antibiogram Data for Helicobacter pylori from a National
-
Urinary hydrocodone and metabolite concentrations in patients in prescription drug
-
Workplace Outreach Program Facilitates Referral into Physician Care and Diagnosis
-
2021 conference presentations
-
A Comprehensive Analysis of Synthetic Samples for Detecting Medically Relevant Genomic Variants
-
Analyzing the Mitochondrial Genome of Over 2500 Patients With Retinal Disease
-
Arginine to ornithine ratio as a diagnostic marker in patients
-
A Web-Based Educational Program to Support the Updated ACMG/ClinGen Technical Standards for Constitutional Copy Number Variant Classification
-
Biallelic NRAP Variants Are a Significant Cause of Dilated Cardiomyopathy
-
Comparison of Validated Neurological Outcome Instruments to Assess Myasthenia Gravis in Outpatients Receiving Long-Term Therapeutic Plasma Exchange: A Multicenter Quality Assessment Project
-
Customization of the ACMG/AMP Framework for Rett and Angelman-like Disorders Presents Unique Challenges
-
Detection of Germline and Somatic BRCA Mutations Using a 50 Gene Next Generation Sequencing Panel
-
Developing a Streamlined and Sustainable Variant Curation Process: Experience From ClinGen’s Cardiomyopathy Variant Curation Expert Panel
-
Diagnostic efficacy of next generation sequencing panel tests in the
-
Diagnostic Utility of Next-Generation Sequencing Panel Tests in the Diagnosis of Skeletal Dysplasias
-
Diagnostic Yield and Clinical Utility of Genetic Testing in Children with Seizure Onset After 2 Years of Age: An Update
-
Drug Misuse: The Worsening Epidemic Within the Pandemic
-
Expanding the Mutational Spectrum for Branchiooculofacial Syndrome: A Novel Nonsense Variant
-
Frequency of Pathogenic and Likely Pathogenic Variants in Breast and Ovarian Cancer Genes Identified in a 34-Gene Hereditary Multi-Cancer Panel at a Diagnostic Reference Laboratory
-
HTT CAG Repeat Length Variation in Huntington Disease (HD) Patients: Experience from a US Reference Laboratory
-
Macroprolactin Molecular Heterogeneity and Variable Immunoassay Reactivity
-
Next-Generation Sequencing Panels for Hereditary Hearing Loss Testing With Approaches for Difficult-to-Sequence Regions
-
Novel BCL11A Variant Arg3Cys in a Patient With Intellectual Disability and Persistence of Fetal Hb
-
Phenotypic and Heteroplasmy Level Variability in m.3243 Mitochondrial Disease
-
Prenatal Theoretical Diagnostic Yield of a Rapid, Targeted Genetic Panel Designed for Critically Ill Pediatric Patients
-
Retrospective Review of Genetic Testing for Inherited Bone Marrow Failure Syndromes
-
Stimulated Copeptin Response to Arginine-Insulin Tolerance Test: A Novel Method to Assess Posterior Pituitary Function?
-
The Arginine Stimulation Test Allows Rapid Diagnosis of Central Diabetes
-
The First Report of the American Society for Apheresis Thrombotic Thrombocytopenic Purpura Multi-institutional Registry: 2019-2020
-
The Worsening Epidemic Within the COVID 19 Pandemic
-
SARS-CoV-2 IgM Detection in Relation To Reactivity In 4 SARS-Cov-2 IgG Assays
-
Cerebrospinal Fluid Aβ42, Total Tau, and Phosphorylated Tau in the Evaluation of Alzheimer’s Dementia: Experience From a Commercial Reference Laboratory
-
Evaluation of Heparin-induced Thrombocytopenia Before and during the COVID-19 Pandemic at a US National Reference Laboratory
-
Next-generation sequencing panels for hereditary hearing loss testing with approaches for difficult-to-sequence regions
-
Review of mitochondrial genome analysis in over 7,500 patients using clinical grade mtDNA sequencing
-
Retrospective review of genetic testing for inherited bone marrow failure syndromes
-
SARS-CoV-2 IGM Detection in Relation To Reactivity In 4 SARS-Cov-2 IGG Assays
-
AMPAR2 Encephalopathy: A Recently Described Reversible Cause of Cognitive Impairment
-
Cerebrospinal Fluid Aβ42, Total Tau, and Phosphorylated Tau in the Evaluation of Alzheimer’s Dementia: Experience From a Commercial Reference Laboratory
-
Evaluation of Heparin-induced Thrombocytopenia Before and during the COVID-19 Pandemic at a US National Reference Laboratory
-
Highly atherogeneic lipid particles are associated with preeclampsia (Pre-E) in obese women with unexplained infertility who conceived during ovarian stimulation with intrauterine insemination (OS-IUI)
-
Measurement of Intact Insulin by Mass Spectrometry Identifies Nonalcoholic Fatty Liver Disease (NAFLD)
-
Establishing Gene Curation and the Clinical Validity of Variants Causing Antibody Deficiency
-
Comparison of Two Devices for MALDI-TOF Sample Preparation
-
Comparison of Two EIA (Antigen) Methods and Culture in Detecting Campylobacter Species from Fecal Specimens
-
Presumptive versus definitive drug testing: What are we missing
-
Optimizing performance of copy number variant caller based on improved baseline selection
-
The effects of intravenous fish oil emulsion and fatty acid profiles
-
Verification of an EZH2 mutation test from formalin-fixed paraffin-embedded (FFPE) follicular lymphoma tumor tissue specimens
-
Development of multiplex synthetic positive controls for an expanded CFTR mutation testing
-
Frequency of 5 Cancer Types in Families with a Pathogenic or Likely Pathogenic Variant in the ATM Gene
-
High Levels of Myeloperoxidase are Similar Across ASCVD Risk Groups and are Associated with Markers of Liver Fibrosis and Kidney Function in a Workforce Population
-
Biomarkers of glucose-insulin homeostasis, randomized treatment with omega-3 and vitamin D supplementation, and incident type 2 diabetes: prospective analysis from the VITamin D and OmegA-3 TriaL (VITAL)
-
Effects of marine omega-3 and vitamin D supplementation on circulating biomarkers of glucose-insulin homeostasis and incident cardiovascular disease in the VITamin D and OmegA-3 TriaL (VITAL)
-
Evaluating Testing Patterns and Prevalence Estimates of Hepatitis B Virus and Latent Tuberculosis Co-Infection from 2016 to 2020: A National Clinical Laboratory Database Analysis
-
Retrospective review mitochondrial genome analysis 7000 cases using clinical grade mtDNA sequencing
-
Diagnostic yield and impact of secondary findings adult patients
-
Diagnosis with Comprehensive NGS Genetic Testing for Primary Immunodeficiencies NSGC
-
Diagnosing skeletal dysplasia: a retrospective assessment of diagnostic utility of NGS (NSGC)
-
Increasing diagnostic yield of panel-based testing: retrospective review mitochondrial genome analysis
-
Inherited bone marrow failure syndromes: Genetic testing for this growing field
-
NGS panels for hereditary hearing loss testing with approaches for difficult-to-screen regions
-
Assessment oxycodone and metabolites in urine and oral fluid prescription drug monitoring programs
-
Evaluation of EtG and EtS alcohol markers in urine and oral fluid after hard kombucha consumption
-
Utility of RT-PCR testing on whole blood for the diagnosis of early Lyme disease
-
C-peptide certified reference materials: assessing peptide modifications to avoid bias
-
Antibody-free quantification of serum chromogranin A by targeted mass spectrometry
-
Diagnosis with comprehensive NGS genetic testing for primary immunodeficiencies
-
Increasing diagnostic yield of panel-based testing: retrospective review mitochondrial genome analysis
-
Inherited Bone Marrow Failure Syndromes: Genetic Testing for This Growing Field
-
NGS panels for hereditary hearing loss testing with approaches for difficult-to-screen regions
-
Cryptosporidium detection in stool specimens: a study of EIA, DFA, and Direct Microscopic Method
-
User preferences visualization of antibiogram data in clin practice for empiric antibiotic prescription
-
Diagnosis with Comprehensive Next-Generation Sequencing Genetic Testing for Primary Immunodeficiencies
-
Diagnosing Skeletal Dysplasia: A Retrospective Assessment of the Diagnostic Utility of Next Generation Sequencing
-
Biotinidase biochemical and molecular analyses: Experience at Quest Diagnostics Nichols Institute Biochemical Genetics Laboratory
-
A Draft Framework for Classification and Reporting of Risk Alleles from the ClinGen Low-Penetrance/Risk Allele Working Group
-
Individual and Community Factors Associated With Detectable and Elevated Blood Lead in US Children: Results From a National Clinical Laboratory
-
Presumptive Versus Definitive Drug Testing: What Are We Missing - PriMed 2021
-
Heparin-Induced Thrombocytopenia Testing: ELISA Based Anti-Platelet Factor 4 Polyspecific and IgG-Specific Antibody Detection Assays Compared to the Unfractionated Heparin Serotonin Release Assay
-
2022 conference presentations
-
Quest & Covaris Partner to Build Advanced NGS Genomics Platform
-
Development of a High-Throughput NGS Workflow for SARS-CoV-2 Whole-Genome Sequencing
-
Spinocerebellar Ataxia Genetic Testing in over 33,000 Pediatric Patients
-
Post-induction Minimal Residual Disease Defined by Next-Generation Sequencing Predicts Poorer Clinical Outcomes in Patients with Acute Myeloid Leukemiag
-
Next-Generation Sequencing Panels for Cystic Kidney Disease with Improvements for Sequencing and Alignment Challenges
-
Diagnostic Yield of Genetic Testing in an Unselected Cohort of Patients with Congenital Heart Disease
-
Genetic Findings in a Cohort of Patients with Pulmonary Arterial Hypertension Referred for NGS Panel Testing
-
Searching beyond exons in nuclear genes: Diagnostic deep intronic and mitochondrial DNA variants in patients with monogenic diabetes
-
Genetic Testing for Spinocerebellar Ataxias in Pediatric Patients
-
A Streamlined Process for Assessing the Strength of a Relationship Between a Gene and Specific Disease
-
Characterizing molecular diagnostic findings from next-generation sequencing panel testing for individuals with suspected congenital hypothyroidism or resistance to thyroid hormone
-
A laboratory-developed quantitative hepatitis B surface antigen (qHBsAg) test detects 8 major HBV genotypes and sG145R mutants
-