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Medica 2025
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Molecular Diagnostics

Image: By comparing sensory, metabolic, and genetic data from patients with trimethylaminura (TMAU), researchers found that the cause of TMAU in some patients is likely due to mutations in genes other than FMO3 (Photo courtesy of the Monell Center).

Researchers Find Additional Genes Responsible for Foul Odor Disorder

A study using whole exome sequencing of patients with trimethylaminura (TMAU) may to lead to additional diagnostic criteria and therapeutic targets for this rare metabolic disorder, which until now has been generally attributed solely to mutations in the FMO3 gene. More...
28 Feb 2017
Image: The Stratagene Mx3000P thermal cycler (Photo courtesy of Agilent Technologies).

Genetic Defect Identified as Cause of Multiple Organ Disease

A novel gene called sphingosine-1-phosphate lyase (SGPL1) has been identified which causes multi organ disease particularly affecting the kidneys and adrenal glands and this may represent a novel lipid storage disorder similar to Niemann-Pick and Fabry disease, which are multi-systemic and progressive, often with neurological involvement. More...
24 Feb 2017
Image: Chronic lymphocytic leukemia. The peripheral blood smear shows an absolute lymphocytosis of small “mature” lymphocytes with clumped, smudgy chromatin and scant cytoplasm. Smudge cells (near the top right) are a common finding (Photo courtesy of Cleveland Clinic).

Immune System Genes Linked to Chronic Lymphocytic Leukemia

Chronic lymphocytic leukemia (CLL) is an indolent B-cell malignancy that has a strong genetic component, as evidenced by the eightfold increased risk seen in relatives of CLL patients. More...
24 Feb 2017
Image: The Ion personal genome machine (Photo courtesy of Thermo Fisher Scientific).

New Assay Advances Personalized Therapy for Cancer Patients

Precision medicine attempts to direct treatment for a patient based on molecular alterations known to exist in the patient's disease and the treatment of patients with cancer has been at the center of the evolution for precision medicine studies. More...
24 Feb 2017

Genetic Markers Discovered for COPD

Chronic obstructive pulmonary disease (COPD) is a type of obstructive lung disease characterized by long-term poor airflow and the main symptoms include shortness of breath and cough with sputum production and typically COPD worsens over time. More...
23 Feb 2017
Image: The technology consists of a chip with peptide arrays for binding antibodies in blood samples from patients and healthy individual, and is enabling researchers to discover, define, and detect immunosignatures for various diseases (Photo courtesy of ASU Biodesign Institute).

Immunosignaturing Platform Provides Pre-Symptom Diagnostics

Researchers have developed an immunosignature profiling technology aimed to provide people with a means of monitoring their health status and a means for early detection of disease by rapidly testing for many diseases at once from a single drop of blood. In addition, the versatile technology could be used to secure a nation’s blood supply or give early warning of a disease epidemic. More...
21 Feb 2017
Image: The new quantitative multiplex assay (cMethDNA) (Photo courtesy of Johns Hopkins Kimmel Cancer Center).

Tumor DNA Blood Test Predicts Advanced Breast Cancer Survival

A blood test that spots cancer-linked DNA correctly predicted that most of those patients with higher levels of the tumor markers died significantly earlier than those with lower levels. More...
16 Feb 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.
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