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Molecular Diagnostics

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New Research Sorting Out Risk Genes for Brain Disorders

Using targeted gene sequencing in a large cohort population, researchers have discovered genes associated with higher risk of neurodevelopmental-disorders (NDDs), with some of those genes showing statistical biases for autism. The study provides new information about similarities and differences underlying various NDDs. More...
09 Mar 2017
Image: A structural model of amyloid precursor protein (APP) (Photo courtesy of Wikimedia Commons).

Study Identifies Gene Variants Linked to AD in African Americans

In what may have been the first comprehensive screening of rare coding variants in an African American population, researchers identified several rare gene variants linked to the development of early onset Alzheimer's disease (AD). More...
08 Mar 2017
Image: The HiSeq 2500 high-throughput sequencing system (Photo courtesy of Illumina).

Novel Biomarkers Found for Bowel Cancer Treatment

Bowel cancer is the third most common form of cancer in the world and 95% of cases are colorectal carcinomas and at an advanced stage they are one of the most common causes of death, as only some patients respond to drug treatment. More...
03 Mar 2017
Image: Bone marrow aspirate smear from a patient with myelodysplastic syndrome showing two megakaryocytes with hypolobated, rounded nuclei are present (Photo courtesy of International Agency for Research on Cancer).

Genetic Test Predicts Success of Bone-Marrow Transplant

Genetic mutations drive the pathogenesis of the myelodysplastic syndrome (MDS) and are closely associated with clinical phenotype and therefore, genetic mutations may predict clinical outcomes after allogeneic hematopoietic stem-cell transplantation. More...
02 Mar 2017
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
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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.