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Molecular Diagnostics

Image: Structure of the MECP2 protein (Photo courtesy of Wikimedia Commons).

DNA Reference Samples Will Regularize Diagnosis of Rett Syndrome

A panel of highly characterized DNA samples that identify mutations in the gene that encodes methyl CpG binding protein 2 are now available to clinical laboratories as reference material for the diagnosis of Rett syndrome.  More...
26 Feb 2014
Image: Fetal chromosome test showing trisomy 13, indicated by red arrow (Photo courtesy of the National Human Genome Research Institute).

Noninvasive Prenatal Testing Detects Most Chromosomal Abnormalities

Noninvasive prenatal testing detected 83.2% of chromosomal abnormalities normally picked up by invasive diagnostic testing strategies, such as chorionic villus sampling or amniocentesis.  More...
20 Feb 2014
Image: Karyotype for trisomy Down syndrome showing the three copies of chromosome 21 (Photo courtesy of Wikimedia Commons).

Noninvasive Blood Test for Fetal Trisomies Now Certified for Multiple Pregnancies

A noninvasive molecular diagnostic test for the determination of fetal chromosomal aneuploidies from maternal blood has been validated for use in multiple pregnancies.  More...
20 Feb 2014

Dako and Amgen Collaborate to Develop New Diagnostic Test

Dako, an Agilent company and a worldwide provider of cancer diagnostics, has announced a new project with Amgen to develop a molecular diagnostic test using Dako’s IQFISH hybridization buffer.   More...
18 Feb 2014
Image: PicoPLEX DNA-seq kits. Rubicon Genomics’ single-cell library technology now also for Illumina NGS platforms (Photo courtesy of Rubicon Genomics).

Superior Single-Cell Library Preparation Technology Now Available for Additional Platforms

Innovative single-cell DNA library preparation kits can now be used with Illumina sequencing platforms.  More...
17 Feb 2014
Image: The HiSeq 2000 sequencing system (Photo courtesy of Illumina).

New Genetic Forms of Neurodegeneration Discovered

The number of known causes for the neurodegenerative disorder known as hereditary spastic paraplegia has been doubled.   More...
13 Feb 2014
Image: Pathway-based Human Phenotype Network classification shows relationships between diseases and traits based on shared etiology for certain phenotypes. The diseases and traits in these clusters have more connections to each other than to others in the network: the bolder the line, the stronger the connection (Photo courtesy of Dartmouth College).

New Tool Developed to Identify Genetic Risk Factors

A new biological pathway-based computational model has been developed to identify underlying genetic connections between different diseases.  More...
13 Feb 2014
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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.