Breakthroughs in Alzheimer’s Disease Assessment: Quantitation of CSF Beta Amyloid 40 & 42
Caring for an HIV Patient: Comorbidities and Lab Testing
Pursuing the Standard of Care in HIV Screening
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Cell-free Fetal DNA Testing - The Benefits of Accurate Non-Invasive Prenatal Testing
Noninvasive Prenatal Screening: The Evolving Landscape
Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS).
Improving the Accuracy of Prenatal Screening with DNA Copy-Number Analysis
Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory
Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD
Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.
Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases.
Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis.
Testing for variants in CYP2C19: population frequencies and testing experience in a clinical laboratory.
The dangers of including nonclassical cystic fibrosis variants in population-based screening panels: p.L997F, further genotype/phenotype correlation data.
FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States.
The importance of beta globin deletion analysis in the evaluation of patients with beta thalassemia.