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Molecular Diagnostics

Image: A comparison of an unaffected brain and an affected brain with pachygyria (Photo courtesy of Case Western Reserve University School of Medicine).

Genetic Mutation Identified in Childhood Brain Disorder

Pachygyria is characterized by abnormal movement of brain nerve cells, known as neurons, during development of the brain and nervous system and is caused by a breakdown in the fetal neuronal migration process due to genetic or possibly environmental influences. More...
21 Aug 2018
Image: A micrograph of the most common type of renal cell carcinoma (clear cell) on right of the image; non-tumor kidney is on the left of the image (Photo courtesy of Wikimedia Commons).

Biomarker-Based Blood Test Developed for Early Cancer Diagnosis

A blood test for early detection of kidney cancer is based on the KIM-1 (Kidney-injury-molecule-1) protein biomarker. More...
20 Aug 2018
Image: Molecular basis of familial hypercholesterolemia with a dominant pattern of inheritance: impaired low-density lipoprotein cholesterol clearance due to variations in LDLR, APOB, PCSK9 (Photo courtesy of Mayo Clinic).

Genetic Testing for Hypercholesterolemia Improves Diagnosis

Familial Hypercholesterolemia (FH) is caused by a genetic defect that hinders the body's ability to remove low-density lipoprotein (LDL) cholesterol from the blood. High LDL levels in the blood are more likely to result in narrowing of the arteries, which puts patients at substantially higher lifetime risk for heart disease and stroke at an early age. More...
16 Aug 2018
Image: The figure illustrates how T cells are detected in a blood sample with Epiontis ID. In T cells, the CD3 gene region is epigenetically active (yellow); in all other cell types, this region is epigenetically inactive (blue). The number of epigenetically active CD3 gene copies directly translates to the number of T cells in the sample (Photo courtesy of Precision for Medicine).

Epigenetic Diagnostic Tool Detects Diseases in Newborns

Newborns are routinely screened for inheritable diseases by analyzing dried blood spots (DBS) from blood taken from a heel-prick. Among the more than 300 known primary immune deficiencies (PIDs), only Severe Combined Immunodeficiencies (SCID) are detected at birth with the current technology used to analyze the DBS. More...
13 Aug 2018

New Glioma Test Provides Answers during Surgical Procedures

A new diagnostic test detects certain mutations in glioma tumors during brain surgery and identifies those sensitive to metabolic chemotherapeutic agents. More...
13 Aug 2018
Image: A test incorporating the 13-transcripts might enable earlier diagnosis and treatment of Kawasaki Disease (Photo courtesy of the University of California, San Diego and Imperial College London).

Gene Test Distinguishes Kawasaki Disease from Other Illnesses

Kawasaki disease (KD), the most common acquired heart disease in children, can be diagnosed using a blood test that measures a 13-transcript gene expression signature. More...
13 Aug 2018
Image: The Bladder EpiCheck diagnostic kit (Photo courtesy of Nucleix).

Urine Test Accurately Detects Bladder Cancer Recurrence

Urinary tests have been studied for the detection of bladder tumors; however, most of these tests have not been implemented in clinical practice because of cost issues, practical aspects, or insufficient sensitivity or specificity as compared to the gold standard. More...
10 Aug 2018
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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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