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Molecular Diagnostics

$Image: Illustrated summary of the role of the AIRE gene product and its connection to a group of autoimmune disorders now discovered to be related. The AIRE gene is expressed in a rare population of the thymus, where it is critical for educating immune cells, called T cells, to discriminate between foreign invaders and body’s own proteins. Normally (top) AIRE operates in the form of a complex made up of four identical strands. When both copies of the AIRE gene are mutated (recessive), the resulting complex (middle) is dysfunctional and patients suffer from severe autoimmune disorders. When there are specific mutations in only one copy (dominant, bottom), the protein\'s function can still be disrupted and individuals can develop autoimmune disorders with different levels of severity. (Photo courtesy of Weizmann Institute of Science).$

Rare Hereditary Autoimmune Disease Found to Have More Common Form

Researchers have discovered that single-allele mutations in the gene that causes recessive autoimmune polyendocrine syndrome type-1 can cause a less severe but more common condition. Findings may help identify, diagnose, and treat a number of autoimmune diseases. More...
21 Jun 2015

Image: Researchers used microarrays to simultaneously measure concentrations of hundreds of molecules to identify relevant microRNA expression patterns that could help noninvasively diagnose breast cancer (Photo courtesy of the University Medical Center Freiburg).

Noninvasive Assay Developed for Breast Cancer Diagnosis from Urine

Researchers have pilot-tested the feasibility of detecting breast cancer-specific microRNA expression patterns in patient urine samples and have for the first time demonstrated a proof-of-principle for this novel gene-expression profile assay of BC-specific biomarkers in urine. More...
17 Jun 2015

Image: The WPA-Biowave II Nano-spectrophotometer (Photo courtesy of Biochrom).

LAMP Technique Detects Toxoplasmosis

The analytical sensitivity and specificity of a newly described DNA amplification technique, loop-mediated isothermal amplification, has been tested for the diagnosis of toxoplasmosis. More...
16 Jun 2015

Image: Histopathology of a biopsy smear from a patient with squamous cell carcinoma in the anal canal showing proliferation of atypical cells that infiltrate the stromal (Photo courtesy of Muñiz Hospital).

Biomarker Analysis Reveals Treatment Targets in Anal Cancer

Squamous cell anal carcinoma is a rare, human papillomavirus-associated malignancy accounting for 2% of digestive system cancers and usually these malignancies are detected early and successfully managed with chemoradiation. More...
16 Jun 2015

Ovarian Cancer-Specific Markers Leads to Early Diagnosis

While DNA carries all the instructions necessary for life, its actual sequence contains much more than just the genes that code for proteins, while in contrast messenger ribonucleic acids are complementary copies of just the genes. More...
08 Jun 2015

Image: The HiSeq 2000 sequencing system (Photo courtesy of the University of Queensland).

Blood Test Detects Breast Cancer Metastasis Early

Cell‐free circulating tumor DNA contains tumor‐specific chromosomal rearrangements that may be interrogated in blood plasma and used to detect metastatic breast cancer earlier. More...
03 Jun 2015

Genetic Mutation Test Improves Definitive Diagnosis of Thyroid Nodules

Cytopathology on ultrasound-guided fine needle aspiration biopsies has dramatically improved the clinical management of patients with solid thyroid nodules that are greater than one centimeter. More...
03 Jun 2015

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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.