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Molecular Diagnostics

Image: Radiological response of a Gastrointestinal Stromal Tumor (GIST) possessing an ETV6–NTRK3 fusion following treatment with LOXO-101, a selective TRK inhibitor. A 55-year old male with a T3N0M1 small intestine GIST had progression of disease on five lines of tyrosine kinase inhibitors targeting KIT prior to identification of an ETV6–NTRK3 fusion in the tumor. He was enrolled on a Phase I clinical trial of oral LOXO-101 (Loxo Oncology, Stamford, CT, USA), a selective TRK inhibitor. As compared to baseline PET/CT images (a), the tumors had decreased size and FDG-uptake at week 8 (b). At 4 months, the patient had ongoing partial response (44%) according to RECIST 1.1 criteria (Photo courtesy of the Journal of Translational Medicine).

New Genetic Mutations Linked to Subset of Gastrointestinal Stromal Tumors

Researchers have identified new gene fusions and mutations associated with a subset of Gastrointestinal Stromal Tumors (GIST) patients who lack the documented tell-tale mutations, making diagnosis and treatment more difficult in these cases. More...
27 Dec 2016
Image: The CFX96 real-time PCR detection system (Photo courtesy of Bio-Rad).

Circulating Cell-Free DNA Predicts Gastric Cancer Patients Prognosis

Gastric cancer is the second most common cancer and the fourth leading cause of cancer death and the most significant prognostic indicator is TNM Classification of Malignant Tumors (TNM) staging. More...
21 Dec 2016
Image: A photomicrograph of Onchocerca volvulus microfilarial larva from a skin snip biopsy stained with Giemsa (Photo courtesy of Dr. Lee Moore).

Isothermal DNA Amplification Method Detects Onchocerca in Skin Biopsies

Onchocerciasis, infection with the filarial nematode Onchocerca volvulus is a neglected tropical disease, which is best known as river blindness. Diagnostic procedures for the diagnosis of infection with this nematode parasite are currently based on the microscopic detection of microfilariae in skin biopsies. More...
20 Dec 2016
Image: Fibromuscular dysplasia (FMD) of renal arteries. Image shows \"string-of-beads\" arterial lesions, a feature of multi-focal FMD caused by areas of relative stenoses alternating with small aneurysms. The diameters of the aneurysms exceed the normal diameter of the artery, a sign characteristic of medial FMD. A similar bead appearance may be seen in perimedial FMD, but the diameters of the beads do not exceed the normal diameter of the artery. Note the involvement of branch renal arteries (Photo courtesy of the Journal of Rare Diseases).

Mutations in Gene Show Predisposition to Artery-Damaging Disease

Scientists have discovered that loss-of-function alterations in the YY1AP1 gene can lead to fibromuscular dysplasia (FMD) or similar arterial diseases, including Grange syndrome. The link helps explain what causes this class of arterial disease, which often strikes without warning, as there is currently no test to assess risk of developing FMD. More...
20 Dec 2016
Image: Bacterial colonies of Staphylococcus aureus growing on horse blood agar (Photo courtesy of OMICS International).

Genomics Technique Accelerate Detection of Foodborne Bacterial Outbreaks

Diagnostic testing for foodborne pathogens relies on culture-based techniques that are not rapid enough for real-time disease surveillance and do not give a quantitative picture of pathogen abundance or the response of the natural microbiome. More...
15 Dec 2016
Image: The BinaxNOW rapid Streptococcus pneumoniae antigen card (Photo courtesy of Alere).

Real-Time PCR Of Oropharyngeal Swabs Diagnoses Pneumonia in Adults

A lack of sensitive tests and difficulties obtaining representative samples contribute to the challenge in identifying etiology in pneumonia. Upper respiratory tract swabs can be easily collected and analyzed with real-time polymerase chain reaction (rtPCR). More...
13 Dec 2016
Image: The new CALR RGQ PCR Kit tests for calreticulin (CALR) mutation to aid in diagnosis of myeloproliferative neoplasms (MPN), and is QIAGEN’s latest addition to its ipsogen portfolio of assays for hemato-oncology testing (Photo courtesy of QIAGEN).

Unique Assay Improves Cancer Diagnosis for Leukemia Patients

A new CE-IVD-marked assay for calreticulin (CALR) mutations, run on a well-established RT-PCR platform, aids in establishing the diagnosis of myeloproliferative neoplasms (MPN) in line with the latest WHO recommendations and clinical guidelines. More...
13 Dec 2016
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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.