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Molecular Diagnostics

Image: The ScanScope systems (Photo courtesy of Leica/Aperio).

Five New Genes Identified for ALS

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is characterized by loss of motor neurons in the brain, brainstem and spinal cord, with concurrent muscle atrophy and is typically fatal within 2–5 years from diagnosis. More...
13 Dec 2017
Image: A diagram of the human prostate gland, roughly the size and shape of a walnut, bisected by the urethra. The locations of each of an individual\'s 13 biopsy cores are indicated. Information obtained via single-cell sequencing from cells sampled from each core indicates the likely location of a cancerous tumor (dotted lines encompassing cores 2, 3 and 6) (Photo courtesy of Cold Spring Harbor Laboratory).

Single Cell Genomics Utilized for Evaluation of Prostate Cancer

A distinction between indolent and aggressive disease is a major challenge in diagnostics of prostate cancer. Histopathology of tissue biopsies is a standard method used for evaluating cancer risk. Many decades of experience have led to classification of the histological types correlated with clinical outcome. More...
13 Dec 2017
Image: A diagram of the Kompetitive Allele Specific Polymerase Chain Reaction (PCR KASP) method (Photo courtesy of J.P. Livingstone).

Genetic Link Found Between Immune System and Lymphoma

Classical Hodgkin lymphoma (cHL) is a lymphoid malignancy of germinal center (GC) B-cell origin, which is characterized by Hodgkin and Reed–Sternberg (HRS) cells with a dominant background population of reactive inflammatory cells. More...
12 Dec 2017
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
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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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