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Molecular Diagnostics

Image: The Aperio Scanscope CS whole slide scanner system (Photo courtesy of Leica).

Gene Panel Predicts Damage in Donated Kidneys

Kidney transplantation is a life-extending procedure and a panel of genes has been identified that can help predict whether a transplanted kidney will later develop fibrosis, an injury which can cause the organ to fail. More...
04 Aug 2016
Image: The SurePath preservative fluid kit (Photo courtesy of Becton Dickinson and Company).

HPV Test Approved for Use with SurePath Preservative Fluid

Human papilloma virus (HPV) infections are the most common sexually transmitted infections in the USA, and HPV genotypes 16 and 18 cause approximately 70 % of cervical cancers worldwide. According to the National Cancer Institute, there will be an estimated 12,990 new cases and 4,120 deaths from cervical cancer in the USA during 2016. More...
03 Aug 2016
Image: The SepsiTest allows the reliable molecular analysis of whole blood samples for bacteremia and fungemia (Photo courtesy of Molzym).

Direct Molecular Detection of Bloodstream Infection Evaluated

Blood culture is the current gold standard for detecting bacteria in blood, requires at least 24 to 48 hours and has limited sensitivity if obtained during antibiotic treatment of the patient. Severe sepsis is sepsis associated with organ dysfunction, hypoperfusion, or hypotension. More...
02 Aug 2016
Image: Distribution of single nucleotide variant (SNV) counts detected through exome sequencing of melanoma samples, grouped by the presence of R-alleles of the MC1R locus shown as a boxplot with median, quartiles, whiskers, and outliers (Image courtesy of Nature Communications).

Red Hair Genetics Drive Up Skin Cancer Mutations

An international research team has shown that gene variants associated with red hair, pale skin, and freckles are linked to a higher number of genetic mutations in cutaneous melanoma cancers. The burden of mutations associated with these variants is comparable to an extra 21 years of sun exposure in people without this variant. More...
01 Aug 2016
Image: Researchers have found that DNA sequence analysis of blood samples from an initial set of ovarian cancer patients enabled detection of cancer recurrence long before a tumor reappears in analysis of tissue biopsies, suggesting that use of liquid biopsies may overcome obstacles to early detection and monitoring posed by current tumor tissue-based tests (Photo courtesy of the Mayo Clinic).

Liquid Biopsies Offer New Hope for Treatment and Tracking of Ovarian Cancer

Researchers are developing a new approach that could enable early detection, monitoring, and treatment for ovarian cancer (OC) that reoccurs in patients in remission: they found that liquid biopsies from blood tests and DNA sequencing can detect OC recurrence long before a tumor reappears. More...
01 Aug 2016
Image: Microscope images showing the Thr47Pro mutation in the BCL11A gene changes the distribution of BCL11A protein in a cell, which also prevents it from co-localizing with NONO, another protein implicated in intellectual development (Photo courtesy of the American Journal of Human Genetics).

Newly Described Intellectual Disability Syndrome Caused by Damage to Single Gene

Scientists have discovered that the gene for transcription factor BCL11A is responsible for a previously unidentified intellectual disability and have identified a mechanism by which loss-of-function BCL11A mutations can lead to cognitive disability. The findings could lead to new targeted therapies and diagnostic tests for this disorder. More...
01 Aug 2016
Image: The HiSeq 2500 sequencing system (Photo courtesy of Illumina).

Genetic Mutations Linked to Rare Multiple Bowel Tumors

Most people with colorectal cancer will develop one primary tumor, which may then multiply and spread; however, in around 2% to 5% of colorectal cancer (CRC) cases, two primary tumors will originate and develop independently, known as synchronous colorectal cancer. More...
28 Jul 2016
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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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