In this “Hot Topic,” Nicole Hoppman, Ph.D., discusses mate-pair sequencing, which is the first clinically available test that can characterize almost any chromosomal rearrangement, helping to establish pathogenicity, and, in a neoplastic setting, assist in diagnosis, prognosis, and identification of optimal therapeutic options.
This month’s Hot Topic will provide you with valuable information regarding the utility of the prostate specific antigen test, and how the calculation of a prostate health index, or phi, can help to stratify a patient’s risk for prostate cancer and reduce unnecessary biopsies.
In this month’s “Hot Topic,” Ariela Marshall, M.D., provides an overview of venous thromboembolism in the pregnant population, including its risk factors, treatment, and prevention.
Diabetes mellitus type 1 accounts for most juvenile-onset diabetes. This disease is easily identified by testing for 4 antibodies, and the antibodies can even be detected before the patient becomes symptomatic. A new diabetes evaluation is now available to help detect disease, differentiate between diabetes type 1 and type 2, and aid in the risk assessment for future diabetes risk.
According to the Centers for Disease Control and Prevention, more than 20,000 people each year in the United States are diagnosed with myeloma, which is a cancer of the plasma cells. In this month’s “Hot Topic,” Dragan Jevremovic, M.D., Ph.D., reviews the diagnostic criteria for multiple myeloma and discusses the laboratory tests, including the use of next-generation sequencing, that can be used to help diagnose and manage patients with this disease.
Microcalcifications of the breast are detected through routine mammography. When identified, it’s necessary to ensure that these are not something more serious, such as colloid carcinoma or atypical ductal hyperplasia. In some cases, biopsy specimens demonstrate mucocele-like lesions of the breast. In this presentation, Daniel Visscher, M.D., discusses the Mayo Clinic experience in identifying these lesions and the associated risk of cancer.
Millions of Americans suffer from allergies with peanut allergies being of particular interest. For the patient’s welfare, it’s important to understand when that allergy is actually allergic disease or sensitization as a result of exposures. These 2 clinical pictures can be differentiated using laboratory testing, in addition to the clinical history, to identify the presence of allergen-specific IgE.
Diagnosis of chronic granulomatous disease (CGD) is complex, as there are five genes and two different inheritance patterns involved. The DHR/Dihydrorhodamine (DHR) Flow Cytometric Test, Blood assay is the most commonly used assay for diagnosis of CGD. Accurate assessment of the NADPH oxidase activity is highly dependent on having a high-quality specimen that is received within 24 hours of collection.
Clostridium difficile is an important cause of health-care-associated infections. C. difficile infections (CDI) present with a wide range of symptoms, from diarrhea to toxic megacolon. Accurate and rapid diagnosis is important to begin therapy with an appropriate antimicrobial agent and discontinue antimicrobial agents that may be predisposing the patient to CDI. This Hot Topic covers several methods for diagnosing CDI, including molecular NAATs, EIAs, and culture.
Increasing complaints about heel bruising in infants following blood-spot collection raised concerns about the best option for collecting blood from infants. A team from Mayo Clinic evaluated the practice of warming the heel prior to puncture, using venipuncture instead of heel puncture, and infant distress as a result of either heel puncture or venipuncture.
Programmed cell death ligand 1 (PD-L1) is a protein that can be expressed on tumor cells and immune cells. Anja Roden, M.D., discusses the role of PD-1 – PD-L1 interaction in the immune system and the challenges of PD-L1 testing.
Knowing which test is the correct test can be difficult. Ordering the wrong test can provide misleading results and increase costs to the patient. In this case review, Sarah Kerr, M.D., explains similarities and differences between mismatched repair defects and microsatellite instability when screening patients for Lynch syndrome.