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Molecular Diagnostics

Image: Bone marrow biopsy from a patient with polycythemia vera showing a hypercellular marrow as a result of an increase of myeloid, erythroid and megakaryocytic elements (Photo courtesy of Karl Theil MD).

Tumor Sequencing Finds Mutations Caused by Blood Disorder

Clinical sequencing assays aim to identify somatic mutations in cancer cells for accurate diagnosis and treatment. However, most clinical-grade implementations lack patient-matched germline DNA, and supplemental analyses are needed to infer the mutational status of variants. More...
15 Jan 2019
Image: The BabySeq study explored the use of genome sequencing in newborns that may give parents greater insight into their infants’ health (Photo courtesy of Brigham and Women\'s Hospital).

Newborn Genomic Sequencing Detects Disease Risk Factors

Genomic sequencing provides many opportunities in newborn clinical care, but the challenges of interpreting and reporting newborn genomic sequencing (nGS) results need to be addressed for its broader and effective application. More...
15 Jan 2019
CELLAVISION AB
Image: The Biofire FilmArray multiplex RT PCR system enables simultaneous testing for bacteria, viruses, yeast, parasites and/or antimicrobial resistant genes (Photo courtesy of bioMérieux).

Tools for Meningitis Diagnostics Implemented in Resource-Limited Settings

Meningitis remains a top cause of premature death and loss of disability-adjusted life years in low-income countries. In resource-limited settings, proper laboratory diagnostics are often scarce and knowledge about national and local epidemiology is limited. More...
14 Jan 2019
Image: A High Pure PCR template preparation kit (Photo courtesy of Roche Diagnostics).

LAMP Test Rapidly Detects Sexually Transmitted Chlamydia

Chlamydia trachomatis is the leading cause of sexually transmitted diseases (STDs) in females and males in both developed and developing countries, with more than 110 million cases annually. C. trachomatis resists antibiotic treatment and is a cofactor in HIV transmission and human cervical cancer. More...
10 Jan 2019
Image: A diagram showing normal and polycystic ovary syndrome, in the latter the ovaries may develop numerous small collections of fluid (follicles) and fail to regularly release eggs (Photo courtesy of Mayo Clinic).

New Risk Loci Identified for Polycystic Ovary Syndrome

Polycystic ovary syndrome is a disorder characterized by hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology. Affected women frequently have metabolic disturbances including insulin resistance and dysregulation of glucose homeostasis. More...
09 Jan 2019
Mayo Medical Laboratories
Image: The NovaSeq 6000 sequencing system platform (Photo courtesy of Illumina).

Diverse Chronic Kidney Diseases Diagnosed with Exome Sequencing

Exome sequencing is emerging as a first-line diagnostic method in some clinical disciplines, but its usefulness has yet to be examined for most constitutional disorders in adults, including chronic kidney disease, which affects more than 1 in 10 persons globally. More...
08 Jan 2019
Image: A comparison of OncoScan array CGH assay–derived metastasis potential scores (MPSs) for indolent primary tumor (iPT) and metastasis-prone primary tumor (mPT) samples (Photo courtesy of Albert Einstein College of Medicine).

Rapid Next-Gen Sequencing Method Predicts Prostate Cancer Risks

Prostate cancer is the most commonly diagnosed male cancer and the second leading cause of cancer deaths among men in the USA, with approximately 220,000 new diagnoses and approximately 27,000 deaths each year. More...
08 Jan 2019

In Other News



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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