Molecular Diagnostics

Titin Gene Mutation Increases Risk of Heart Failure
Previously thought to affect only patients with dilated cardiomyopathy, researchers have discovered that truncating variants in the gene for the protein titin also adversely affect heart function in healthy individuals, placing them at higher risk under conditions of stress. More...29 Nov 2016

Uncombable Hair Syndrome Genes Identified
Some children suffer from tangled hair that cannot be combed due to having the rare uncombable hair syndrome (UHS). Scientists have discovered that mutations in three genes encoding proteins involved in hair shaft formation lead to UHS, in Germany commonly known as Struwwelpeter Syndrome, named after a children’s storybook character. More...29 Nov 2016
Biomarker Identified for Aggressive Thyroid Cancer
A biomarker has been identified for the aggressive disease of papillary thyroid cancer, which comprises about 90% of all thyroid cancers and treatment of the disease historically relied upon a combination of surgery and radioactive iodine ablation with few alternatives if the disease progresses. More...25 Nov 2016

Blood Test May Help Identify Fetal Alcohol Spectrum Disorders
Fetal alcohol syndrome is a severe form of a spectrum of mental and physical disabilities called fetal alcohol spectrum disorders (FASD) that can affect children's development with long-lasting consequences and a blood test has been developed to predict the severity of disability. More...25 Nov 2016

Molecular Signature Identified for Aggressive Brain Tumor
Meningiomas are the most common primary brain tumors, but the term encompasses over a dozen subtypes that range from benign to highly aggressive. Rhabdoid meningiomas are classified as highly aggressive due to their high rates of recurrence and mortality, but the experience and outcomes for patients with this rare form of brain tumor vary widely. More...23 Nov 2016


Software Platform Provides Capabilities for Somatic Variation Analysis
An upgraded information-processing platform enables clinical genetics and molecular pathology laboratories to achieve higher performance and efficiency in somatic variation analysis of tumor-tissue sequencing data and in reporting of tissue-typing results, among other features. More...22 Nov 2016
In Other News
Gene Sets Identified May Predict Response to RA Therapies
Tumor Markers Reveal Lethality of Bladder Cancers
Identification of Gene Defects Helps Prostate Cancer Treatment
Prenatal Genetic Test Is Accurate Five Weeks into Pregnancy
Disease Genes Effect May Be Overcome by Other Gene Mutations
Vascular Development Gene Helps Protect Against Stroke Damage
Common Gene Sets Disrupted in Major Psychiatric Disorders
Early Childhood Screening Helps Prevent Heart Attacks
New Genetic Factors Linked to HPV-Related Cancers
Testing Method Clinically Ascertains Genetic Basis for Hypercholesterolemia
Gene Abnormality Found to Underlie Rare Neurological Disease
Non-Invasive Assay Improves Surveillance of Solid-Organ Transplants
Low Cost Method Examines Single Leukemic Cells
Commercial Molecular Assay Validated for Dengue Virus Outbreak
Blood Test for Colorectal Cancer Recurrence Proves Highly Sensitive
DNA-Based Analysis Detects Group A Streptococcus
Gene Activity Mapping Points to Two Subtypes of Crohn's Disease
Liquid Biopsy Tests Identified Cell-Free Tumor DNA Mutations
Simple Blood Test Vastly Improves Severe Liver Disease Detection
Strange Chimeras Defy Scientific Understanding of Human Genetics
New Genetic Links Identified for Heart Disease Risk Factors
Field Test Allows Rapid Diagnosis of Chikungunya Virus Infection
Quantitative Molecular Diagnostic Methods Identify Causes of Childhood Diarrhea
Genetic Testing channel of LabMedica brings the latest in molecular genetics, cytogenetics, and epigenetics, and methods from PCR to FISH, and more.







