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Molecular Diagnostics

Image: Photomicrograph of histology of a Ewing sarcoma in lung. The PAS stain highlights glycogen and the staining was negative with a PAS diastase stain (Photo courtesy of Nephron).

Comprehensive Molecular Profiling Matches Pediatric Patients to Therapies

A major challenge of using a comprehensive profiling approach for precision medicine is separating pathogenic from non-pathogenic molecular changes within a tumor. More...
22 Oct 2020
Image: The HiSeq XTen human whole- genome sequencing system (Photo courtesy of Illumina).

Urine-Based Liquid Biopsy Test Detects Urothelial Carcinoma

Urine cytology, which is widely used to screen for bladder cancer, has high specificity but lacks sensitivity, especially for low-grade cancers. Cystoscopy, while more accurate than cytology, is an invasive procedure with added costs and potential complications for the patient. More...
22 Oct 2020
Image: Schematic view of the placenta (Photo courtesy of Wikimedia Commons)

Analysis of Placental Cell Free DNA and RNA Predicts Gestational Complications

A recent paper revealed that circulating cell-free nucleic acids (DNA and RNA) shed from the placenta into the mother's blood during the first trimester of pregnancy could be used to predict potentially serious complications such as ischemic placental disease and gestational diabetes. More...
20 Oct 2020
Image: Ultrasound scan of fetus showing hydrops fetalis (Photo courtesy of Wikimedia Commons)

Exome Sequencing Identifies Genetic Loci Linked to the Fetal Syndrome Nonimmune Hydrops Fetalis

An exome sequencing technique was used to identify genetic loci linked to development of about 30% of cases of nonimmune hydrops fetalis (NIHF). More...
19 Oct 2020
Image: Mutations Disrupting Neuritogenesis Genes Confer Risk for Cerebral Palsy (Photo courtesy of Sudarshan Dayanidhi, PhD, and Richard L. Lieber, PhD).

Mutations Disrupting Neuritogenesis Genes Confer Risk for Cerebral Palsy

Cerebral palsy (CP) is a group of permanent movement disorders that appear in early childhood. Signs and symptoms vary among people and over time. Often, symptoms include poor coordination, stiff muscles, weak muscles, and tremors. More...
14 Oct 2020
Image: Mitochondrial DNA comprises the small circular chromosome found inside mitochondria. The mitochondria, and thus mitochondrial DNA, are passed from mother to offspring (Photo courtesy of Wikimedia Commons)

Elevated Levels of Defective Mitochondrial DNA Predict Likelihood of Reproductive Success

A sperm biomarker has been found that may be able to supplement or replace the semen parameters that poorly predict reproductive success yet are the most prevalent diagnostic tool for male infertility. More...
14 Oct 2020
Image: DBS sampling is simple, inexpensive and can be self-collected by the patient at home, using a simple finger prick (Photo courtesy of University of Birmingham)

Use of Dried Blood Samples Facilitates Tracking of COVID-19 Antibodies

A recent study confirmed that dried blood spot samples could be used as an alternative to venous blood for detecting antibodies to the SARS-CoV-2 virus (COVID-19). More...
13 Oct 2020
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Genetic Testing channel of LabMedica brings the latest in molecular genetics, cytogenetics, and epigenetics, and methods from PCR to FISH, and more.
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