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Molecular Diagnostics

Image: Exome sequencing workflow: Double-stranded genomic DNA is fragmented by sonication. Linkers are then attached to the DNA fragments, which are then hybridized to a capture microarray designed to target only the exons (Photo courtesy of SarahKusala).

Exome Sequencing Identified Pathogenic Variants in Cerebral Palsy Patients

Cerebral palsy (CP) is a group of permanent movement disorders that appear in early childhood. Signs and symptoms vary among people and over time. Often, symptoms include poor coordination, stiff muscles, weak muscles, and tremors. More...
18 Feb 2021
Image: The crystal structure of the nucleosome core particle (Photo courtesy of Wikimedia Commons)

Analysis of Cell-free DNA in the Blood May Replace Examination of Biopsy Specimens for Disease Diagnosis

A recent paper described a blood-based liquid biopsy method for detection of a wide variety of diseases including several types of cancer. More...
16 Feb 2021
Image: Atypical lipomatous tumor/well-differentiated liposarcoma (left-hand); lipoma (right-hand) (Photo courtesy of Dr.Tony Ng, The University of British Columbia)

NanoString Technology Modernizes Liposarcoma Diagnostics

A recently published study showed that a newer NanoString-based method could allow for more rapid and cost-efficient diagnosis of liposarcomas than the commonly used fluorescence in situ hybridization (FISH) method. More...
15 Feb 2021
Image: The Technothrombin TGA is a thrombin generation assay (TGA) based on monitoring the formation of thrombin by means of a fluorogenic substrate upon activation of the coagulation cascade by tissue factor (Photo courtesy of Technoclone).

TFP Inhibitor Levels Elevated in Bleeding Tendency Patients

Mild to moderate bleeding disorders (MBDs) are characterized by symptoms such as epistaxis, easy bruising, or menorrhagia, but bleeding can also be severe under certain circumstances such as hemorrhage after surgery or birth. More...
11 Feb 2021
Image: The RealStar Zika Virus RT-PCR Kit 1.0 is an in vitro diagnostic test, based on real-time PCR technology, for the qualitative detection of Zika virus specific RNA in human serum or urine (Photo courtesy of Altona Diagnostics).

Prolonged Maternal Zika Viremia Evaluated for Adverse Perinatal Outcomes

The recent worldwide epidemic confirmed maternal–fetal transmission of Zika virus (ZIKV) and its association with adverse perinatal outcomes, particularly severe central nervous system lesions and fetal losses. More...
10 Feb 2021
Image: The NanoSight NS300 Instrument provides an easy-to-use, reproducible platform for nanoparticle characterization (Photo courtesy of Malvern Panalytical Instruments).

Early Plasma Biomarkers Discovered for Alzheimer's Disease

Alzheimer's disease (AD) is the predominant form of dementia and the most common neurodegenerative disorder. Advanced age and the presence of the ε4 allele of the apolipoprotein E gene (APOE) are the most relevant late‐onset sporadic AD‐promoting factors as they interact with the core mechanisms of this neurologic disorder. More...
10 Feb 2021
Image: The Anyplex II HPV28 Detection Kit simultaneously detects and identifies 28 HPV types (19 high-risk and 9 low-risk) (Photo courtesy of Seegene).

TAP1 Gene Polymorphisms Associated with Recurrent Respiratory Papillomatosis

Recurrent respiratory papillomatosis (RRP) is a respiratory tract disease that affects children and adults and is characterized by the recurrent proliferation of multiple papillomas. The proliferation of multiple papillomas within the airway in RRP primarily affects the larynx. More...
09 Feb 2021
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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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