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Molecular Diagnostics

Image: Dyskeratosis congenita manifests as nail dystrophy where nail findings include ridging and longitudinal splitting. The nails may become thinned and atrophic leading to pterygium formation or absent nails. The changes in the fingernails and toenails may worsen over time (Photo courtesy of Dr. Maurice van Steensel).

CRISPR Illuminates Pediatric Bone Marrow Failure Syndrome

Children with dyskeratosis congenita experience progressive bone marrow failure, eventually losing the ability to make red blood cells, white blood cells and platelets and they are also at high risk of leukemia. More...
10 Aug 2017
Image: A diagram of a genetic variant associated with five vascular diseases is a distal regulator of endothelin-1 gene expression (Photo courtesy of the Broad Institute of MIT and Harvard University).

Five Vascular Diseases Linked to One Genetic Variant

Genome-wide association studies have implicated a common genetic variant in chromosome 6p24 in coronary artery disease, as well as four other vascular diseases: migraine headache, cervical artery dissection, fibromuscular dysplasia, and hypertension. More...
09 Aug 2017
Image: The Ion Ampliseq library preparation kits (Photo courtesy of Thermo Fisher Scientific).

Liquid Biopsy Could Identify Advanced Breast Cancer Patients

A novel blood test has been developed that measures genetic changes in circulating cancer DNA that could help identify patients with metastatic breast cancer who could benefit from a change of treatment. More...
09 Aug 2017
Image: The Professional Standard TRIO thermal cycler provides three independent 48 well blocks and heated lids in one housing (Photo courtesy of Biometra).

Methods Compared for Chagas Disease Diagnosis

Chagas Disease (CD) is a chronic infectious disease caused by the protozoan flagellate Trypanosoma cruzi. In endemic countries, CD is transmitted mainly through the contact with feces of different triatomine bugs. Due to increased migration, CD has become an international health problem. More...
08 Aug 2017
Image: A new study suggests that Ashkenazi Jewish women can benefit from genetic testing for all known breast cancer genes (Photo courtesy of the University of Washington).

Study Shows Predisposed Cancer Factors in Ashkenazi Jewish Women

Upon finding additional breast cancer mutations in Ashkenazi Jewish breast cancer patients, a new study suggests that this population of women can benefit from genetic testing for all known breast cancer genes. More...
07 Aug 2017
Image: A cluster of circulating tumor cells (CTCs, shown in red) originated from the blood of a breast cancer patient (Photo courtesy of the NIH).

Breast Cancer Diagnosed by Measuring Circulating Tumor DNA

An unintended consequence of a recent drug study was the discovery that measurement of circulating tumor DNA (ctDNA) could be used to diagnose a type of breast cancer with an unamplified HER2 mutation. More...
07 Aug 2017

Study Highlights Ethnic Diversity of Lupus-Linked Genes

A large genotyping study has identified multiple regions of the genome linked to the autoimmune disease systemic lupus erythematosus (SLE) in individuals of European, African, and Hispanic Amerindian ancestry. More...
03 Aug 2017
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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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