Molecular Diagnostics
Genomic Variants Contribute to Cognitive Impairment
Genetic alterations of rare deletions or duplications of small DNA segments, called copy number variants (CNVs), have been known to increase risk of neurodevelopmental disorders such as schizophrenia, autism spectrum disorder, and intellectual disability. More...26 Jul 2017
Molecular Testing Evaluated for Thyroid Nodules
Thyroid nodules are a common clinical concern and increasing use of diagnostic imaging likely explains a large part of the increased incidence of thyroid nodules and the subsequent diagnosis of thyroid cancer that has been observed during the last three decades. More...26 Jul 2017
New Gene Mutation Associated with Fanconi Anemia
Fanconi anemia is a rare genetic disease characterized by bone marrow failure heralded by low platelet counts and unusually large red blood cells. Mutations in over 20 genes have been identified as causative for Fanconi anemia, which encode proteins commonly involved in DNA repair mechanisms. More...25 Jul 2017
Parkinson’s Disease Patients at Higher Risk for Melanoma
Study finds that people with Parkinson’s disease have a much higher risk of the skin cancer melanoma, and vice versa. Physicians treating patients with one disease should be vigilant for signs of the other in order to achieve early diagnosis and treatment, and patients should be educated about the risk of developing the other illness. More...24 Jul 2017
Nanolock Sensor Detects Cancer Driver Mutation
Researchers have developed an accurate and sensitive “nanolock-nanopore” method that successfully diagnosed a known cancer driver mutation with results at the level of single DNA molecules in tumor tissues of thyroid cancer patients. The method can be adapted to detect a broad spectrum of both transversion and transition mutations, with applications from early diagnostics to individualized targeted therapy and monitoring. More...24 Jul 2017
Alzheimer's Disease Biomarker Assay Heading for IVD Status
A clinical diagnostic kit that measures the concentration of the Alzheimer's disease blood biomarker APOEepsilon4 was unveiled at the Alzheimer’s Association Conference held in London, United Kingdom, from July 16-20, 2017. More...24 Jul 2017
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In Other News
Mapping Genes Could Improve Cancer Diagnosis
Blood Test Developed to Detect Rare Neurological Disease
Heart Failure Associated with Depleted Intestinal Microbiota
Ultra-Early Inflammatory Biomarker Identified for TBI
Genetic Mutations Causing CFZ Syndrome Identified
Tear Substance Indicates Possible Nerve Damage in Diabetes Patients
Urine Test Predicts Bladder Cancer Recurrence
Assay Detects Fish Trematode DNA in Human Stools
Yeast-Based Tool Developed for Pathogen Detection
Liquid Biopsy Blood Tests Detect CtDNA
Gene Mutation Causes Rare Immune Disorder
Opioid-Related Deaths Possibly Prevented By Gene Testing
Study Validates Test to Predict Breast Cancer Risk
Protein Biomarker Panel Detects ASD in Young Boys
Three-In-One Blood Test Could Fuel Personalized Prostate Cancer Treatment
HPV Testing Leads to Earlier Detection of Pre-Cancer
Long-Read Genome Sequencing Diagnoses Rare Condition
Women with HIV Frequently Pass CMV to Infant
PCR Test for Vaginal Pathogens Approved for Use
Immunoassay Used to Diagnose Polycystic Ovary Syndrome
Biopsy Screening for Genetic Diseases Improves Pregnancy Rates
Lab Evidence Confirms Outbreak of Haff Disease
Novel Immune Biomarker Distinguishes Respiratory Infections
Genetic Testing channel of LabMedica brings the latest in molecular genetics, cytogenetics, and epigenetics, and methods from PCR to FISH, and more.
