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Molecular Diagnostics

Image: Karyotype for trisomy 21 or Down\'s syndrome: the image clearly shows the three copies of chromosome 21 (Photo courtesy of Wikimedia Commons).

Study Validates Use of Noninvasive Test for Defective Fetal Chromosomes

A German biomedical company has reported the successful validation of its qPCR-based noninvasive test for fetal genetic abnormalities such as trisomy 21.  More...
13 Dec 2015
Image: BioMark HD Real Time Polymerase Chain Reaction System (Photo courtesy of Fluidigm).

Molecular Methods Differentiate E. coli Outbreaks

The public health importance of Shiga toxin-producing Escherichia coli infections, epidemiological and molecular surveillance systems are essential for early outbreak detection and in recent years, rapid advancements in the use of molecular typing methods have improved STEC surveillance and outbreak detection.  More...
09 Dec 2015
Image: The MiSeq Next-Generation Sequencing System (Photo courtesy of University of Lausanne).

Germline Genes Mutations Associated with Pediatric Cancer Predisposition

The prevalence and spectrum of predisposing mutations among children and adolescents with cancer are largely unknown, but knowledge of such mutations may improve the understanding of tumorigenesis, direct patient care, and enable genetic counseling of patients and families.  More...
06 Dec 2015
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Blood Test Detects When Breast Cancer Becomes Resistant to Treatment

A highly sensitive blood test has been developed that can spot when breast cancers become resistant to standard hormone treatment, and it has been demonstrated that this test could guide further treatment.    More...
02 Dec 2015
Image: Detection of chromosomal deletion by NIPT using maternal blood plasma (top) is similar to detection with the traditional method using fetal tissue (bottom) (Photo courtesy of UC San Diego Health).

Noninvasive Prenatal Technique Detects Subchromosomal Abnormalities

Noninvasive prenatal testing using sequencing of fetal cell-free DNA from maternal plasma has allowed accurate prenatal diagnosis of aneuploidy without requirement of an invasive procedure and this approach has gained increasing clinical acceptance.   More...
24 Nov 2015
Image: The RainDrop droplet polymerase chain reaction system (Photo courtesy of RainDance Technologies).

DNA in Blood Tracks Cancer Development and Response

Circulating tumor DNA analysis can be used to track tumor burden and analyze cancer genomes noninvasively, but the extent to which it represents metastatic heterogeneity is unknown.  More...
23 Nov 2015
Image: The Qubit Fluorometer accurately detects and quantifies very low concentrations of DNA, RNA, and protein (Photo courtesy of Great Lakes Genomics Center).

Blood Test Increases Accuracy in Prenatal Testing

A simple, accurate and low risk blood test can detect fetal blood group, sex, and genetic conditions in unborn babies and the DNA test is inexpensive and is noninvasive, as opposed to the traditional amniocentesis test that involves a needle and carries a minor risk of miscarriage.   More...
22 Nov 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.