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Molecular Diagnostics

Image: A ribbon model of an X-ray diffraction based 3D structure of FANCM- FAAP24 complex, as shown in ID# 4BXO of the Protein Database (PDB) (Photo courtesy of Coulthard R et al, 2013, PDB).

Discovered Inherited Syndrome Predisposes Body to Cancer

The syndrome was found and characterized by studying patients with biallelic mutations (mutations in both inherited gene copies) in the FANCM gene. These mutations predisposed the body to development of tumors and to hypersensitivity to and rejection of chemotherapy treatments. Contrary to what has been thought, the study suggests that mutations in the FANCM gene does not cause Fanconi anemia, a rare disease that affects ~ 1 of every 100,000 children. More...
02 Oct 2017
Image: A photomicrograph of a typical neuroblastoma with rosette formation (Photo courtesy of the U.S. National Cancer Institute).

Gene Variants Predict Child Neuroblastoma Risk

Potential biomarkers predicting a child's risk for developing neuroblastoma are linked to common variants in the MMP20 (matrix metalloproteinase-20) gene on chromosome 11q. More...
02 Oct 2017
Image: Immunohistochemistry for anaplastic lymphoma kinase (ALK) in peritoneal mesothelioma shows separation of the 5\' (green) and 3\' (red) probe signals in each of the three cases with diffuse strong ALK expression (Photo courtesy of the JAMA Network).

Genetic Cause of Peritoneal Mesothelioma Discovered

Mesothelioma is a rare and aggressive tumor that, in many cases, results from exposure to asbestos, but other causes of the disease have emerged, including treatment with high-intensity therapeutic radiation and, more recently, an inherited genetic mutation. More...
28 Sep 2017
Image: The cobas EGFR Mutation Test v2 CE-IVD identifies the epidermal growth factor receptor (EGFR) gene in the DNA from non-small cell lung cancer (NSCLC) patients (Photo courtesy of Roche Molecular Diagnostics).

Blood Test Predicts Treatments for Lung Cancer Patients

Traditionally, lung cancer diagnosis has relied solely on lung biopsies, an invasive procedure which many patients are too unwell to tolerate. A simple test, which can detect gene mutations in tumor DNA from blood samples, is giving new choices to lung cancer patients with faster diagnosis and improved access to life changing drugs. More...
27 Sep 2017
Image: The Affymetrix Genome-Wide Human SNP Array 6.0 features 1.8 million genetic markers including more than 906,600 single nucleotide polymorphisms (SNPs) and more than 946,000 probes for the detection of copy number variation (Photo courtesy of Thermo Fisher Scientific).

Type 2 Diabetes Misdiagnosed in African Americans

Glycated hemoglobin (HbA1c) is used to diagnose type 2 diabetes (T2D) and assess glycemic control in patients with diabetes. Previous genome-wide association studies (GWAS) have identified 18 HbA1c-associated genetic variants. More...
27 Sep 2017
Image: A scanning electron microscope (SEM) image of a single human lymphocyte (Photo courtesy of the National Cancer Institute).

Checklist Developed for Early Identification of Infants with SCID

Poor recognition of severe combined immune deficiency (SCID) syndrome by front-line doctors is leading to delays in diagnosis. A new testing regime aims to make diagnosis faster so that more infants with SCID, a “bubble-baby disease”, can receive life-saving treatment in time. More...
26 Sep 2017
Image: The Dionex Ultimate 3000 high-performance liquid chromatography (HPLC) system (Photo courtesy of the University of Texas at Austin).

Protein Network Mutations Impact Revealed in Bowel Cancer

The role proteins play in predicting how common mutations affect proteins in the cancer cells has been investigated and also whether such proteins are important in predicting the cancer's response to treatment. More...
22 Sep 2017
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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.