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Molecular Diagnostics

Image: A stained bone marrow aspirate smear from a patient with precursor B-cell acute lymphoblastic leukemia (Photo courtesy of VashiDonsk).

Missing DNA Fragments Could Predict Leukemia Relapse

A new risk scoring system has been developed for children with leukemia based on missing DNA fragments or 'microdeletions'. The risk score will allow doctors to better predict the chance of relapse of a subgroup of children currently hidden in a lower risk group. More...
11 Dec 2017
Image: Karyotyping of patient with Klinefelter syndrome, a chromosomal condition that affects male physical and cognitive development. Its signs and symptoms vary among affected individuals. This male has an extra X chromosome (Photo courtesy of Wellcome Trust).

Genetic Testing Unravels Unusual Patterns for Fragile-X Syndrome

Fragile-X syndrome is an X-linked disorder with a prevalence of about 1 in 3,600 to 4,000 in males and 1 in 4,000 to 6,000 in females and is the main cause of inherited intellectual disability (ID) and cognitive impairment. More...
11 Dec 2017
Image: The structure of the PARN (Poly(A)-specific ribonuclease) protein (Photo courtesy of Wikimedia Commons).

Whole Exome Sequencing Offers Clinical Value in Diagnosing CKD

Whole exome sequencing was used to identify the genetic cause of chronic kidney disease in a population of patients, a finding that influenced subsequent treatment of the disease. More...
11 Dec 2017
Image: A diagram of the novel method of extracting DNA using cellulose discs (Photo courtesy of the University of Queensland).

Dipstick Technology Could Revolutionize Disease Diagnosis

Nucleic acid amplification is a powerful molecular biology tool, although its use outside the modern laboratory environment is limited due to the relatively cumbersome methods required to extract nucleic acids from biological samples. More...
07 Dec 2017
Image: The FLUOstar Omega multi-mode microplate reader. A newly developed prion seeding assay called Real-Time Quaking Induced Conversion assay (RT-QuIC), scientists can now measure prion seeding at lower levels and in less than a few days in standard 96-well microplates (Photo courtesy of BMG Labtech).

Prion Protein Found in Skin of CJD Patients

Creutzfeldt-Jakob disease (CJD) is an incurable, and ultimately fatal, transmissible, neurodegenerative disorder in the family of prion diseases. Prion diseases originate when normally harmless prion protein molecules become abnormal and gather in clusters and filaments in the human body and brain. More...
07 Dec 2017
Image: The ThermoQuest Trace GC 2000 gas chromatography mass spectroscopy (GCMS) platform (Photo courtesy of Strona Polimerka).

Metabolites Altered in Chronic Kidney Disease

Chronic kidney disease (CKD) is an important public health problem with a high prevalence worldwide, from 10% to14% of the general population, and strongly increased age-standardized death rate, yet, there is a paucity of effective treatment options. More...
07 Dec 2017
Image: A bone marrow aspirate from a patient with acute myeloid leukemia (Photo courtesy of Cytogenetic Oncology Laboratory).

HLF-Gene Controls Generation of Immune System

Blood stem cells give rise to all of the blood cells, the red blood cells that transport oxygen, the platelets that enable blood coagulation, and our immune cells that protect us from infections. More...
06 Dec 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.