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Molecular Diagnostics

Image: The NextSeq 550Dx next-generation sequencing system (Photo courtesy of Illumina).

Neuro Disorders Involving Epilepsy Include Distinct De Novo Variants

Epilepsy is a central nervous system (neurological) disorder in which brain activity becomes abnormal, causing seizures or periods of unusual behavior, sensations, and sometimes loss of awareness. More...
26 Jul 2018

Sequencing Produces Better Diagnostics for Pediatric Genetic Disease

Currently, chromosomal microarrays are the recommended first-line genomic tests for children with certain genetic diseases, which can be difficult to diagnose. However, whole-genome and whole-exome sequencing have become more common testing approaches in recent years. More...
26 Jul 2018

Biomarker Detects Active Melanoma and Predicts Survival

Melanoma is the most dangerous form of skin cancer, these cancerous growths develop when unrepaired DNA damage to skin cells, which is most often caused by ultraviolet radiation from sunshine or tanning beds, triggers mutations (genetic defects) that lead the skin cells to multiply rapidly and form malignant tumors. More...
25 Jul 2018

$Image: A blood smear from a patient with acute myeloid leukemia showing very large, immature myeloblasts with many nucleoli. A distinctive feature of these blasts is a linear red \"Auer rod\" composed of crystallized granules (Photo courtesy of University of Utah Medical School).$

Acute Myeloid Leukemia Risk Predicted in Healthy Individuals

The incidence of acute myeloid leukemia (AML) increases with age and mortality exceeds 90% when diagnosed after age 65. Most cases arise without any detectable early symptoms and patients usually present with the acute complications of bone marrow failure. More...
25 Jul 2018

Biosensor Chip Detects SNPs with Higher Sensitivity

A single nucleotide polymorphism (SNP) is the change in a single nucleotide base (A, C, G or T) in the DNA sequence and it is the most common type of genetic mutation. While most SNPs have no discernible effect on health, some are associated with increased risk of developing pathological conditions such as cancer, diabetes, heart disease, neurodegenerative disorders, autoimmune and inflammatory diseases. More...
24 Jul 2018

Image: An immunohistochemistry staining for expression of the estrogen receptor positivity (ER+) showing strong nuclear reactivity (Photo courtesy of the Indian National Institute of Pathology).

Cancer Genetics Highlight Mutations Linked to Drug Response

A range of somatic driver alterations has been described in estrogen receptor–positive, HER2-negative (ER+/HER2−) early breast cancer (BC); however, the clinical relevance is unknown. More...
19 Jul 2018

Integrated Analyses Offer Molecular Insights to Tumor Subtypes

The most common malignancy of young adult males of European descent are testicular germ cell tumors (TGCTs) of the type derived from germ cell neoplasia in situ (GCNIS). There are two major histologic types: pure classic seminoma and nonseminomatous germ cell tumors (NSGCTs). More...
19 Jul 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.