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Molecular Diagnostics

Image: Schematic diagram of a urine score for noninvasive accurate diagnosis and prediction of kidney transplant rejection study (Photo courtesy of the University of California, San Francisco).

Urine-Based Kidney Transplantation Rejection Risk Assay Launched

 For kidney transplant recipients, prompt and accurate detection of transplant rejection is vital for timely intervention. Unfortunately, the gold standard for diagnosis of rejection is kidney biopsy, an invasive procedure. More...
30 Mar 2020
Image: Histopathology of cancerous breast tissue, the tumor cells have proliferated in a close pattern without tubular formation. This tumor represented moderately differentiated ductal carcinoma (Photo courtesy of The Japanese Society of Pathology).

Genetic Testing Benefits Postmenopausal Women with Breast Cancer

 Germline genetic testing for pathogenic variants (PVs) in cancer susceptibility genes after breast cancer diagnosis may inform cancer treatment, prevention, and testing of relatives. Postmenopausal women with breast cancer had a threefold higher prevalence of pathogenic variants in breast cancer-associated genes than their cancer-free counterparts. More...
26 Mar 2020
Image: Whole-Genome Sequencing of Finnish Type 1 Diabetic Siblings Discordant for Kidney Disease Reveals DNA Variants associated with Diabetic Nephropathy (Photo courtesy of Duke University).

Kidney Disease Reveals DNA Variants Associated with Diabetic Nephropathy

 Diabetic kidney disease is a serious complication that develops in some people with both Type 1 and Type 2 diabetes. It affects the kidneys' ability to filter extra water and waste products from the body and leads to high blood pressure, swollen extremities, loss of concentration, fatigue and could end in kidney failure. More...
26 Mar 2020
Image: High magnification micrograph of hypertrophic decidual vasculopathy, as seen in pregnancy-induced hypertension (Photo courtesy of Wikimedia Commons)

Combined Maternal and Fetal Gene Variants Predict Pre-Eclampsia Risk

 A genetic signature that combines certain maternal and fetal gene variants shows promise as a means for assessing risk of pregnant women to develop pre-eclampsia. More...
26 Mar 2020
Image: Multitarget Stool DNA Screening has a high positive predictive value for colorectal neoplasia regardless of exposure to previous colonoscopy (Photo courtesy of Madeline Morr).

Multitarget Stool DNA Predicts Colorectal Neoplasia

 Most colorectal cancers are due to old age and lifestyle factors, with only a small number of cases due to underlying genetic disorders. Screening is effective for preventing and decreasing deaths from colorectal cancer. More...
25 Mar 2020
Image: Circulating tumor DNA (ctDNA) assays can be used for the sensitive detection of minimal residual disease in patients treated for early-stage breast cancer (Photo courtesy of Natera).

Liquid Biopsy Assays Target Mutations and Improves Recurrence Prediction

 The concept of creating bespoke or personalized mutation panels to use for cancer recurrence detection and residual disease monitoring is not new at this point. Scientists began piloting these methods several years ago, initially tracking single mutations and then collections of alterations derived from tumor sequencing data. More...
25 Mar 2020
Image: Histological micrograph of a bone marrow biopsy from a patient with parvovirus. The parvovirus nuclear inclusions (clear areas) in the erythroblasts are more evident (Photo courtesy of John Lazarchick, MD).

Plasma Virome of Brazilians with Unexplained Symptoms of Infection

 Deep sequencing of nucleic acids in clinical samples now allows the identification of any known infectious agents, resulting in improved diagnostic capabilities. Blood from healthy people with high exposure to viral infections has also been analyzed using metagenomics. More...
25 Mar 2020
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