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Molecular Diagnostics

Image: A histopathology of adrenal pheochromocytoma from an adrenectomy specimen showing the characteristic stippled (finely granular) chromatin (Photo courtesy of Nephron).

Mutations Related to Hereditary Neuroendocrine Tumors

Pheochromocytomas and paragangliomas are rare neuroendocrine tumors with a strong hereditary component and half the genes whose alterations confer hereditary susceptibility to develop this condition code for enzymes involved in the Krebs cycle. More...
16 Aug 2017
Image: The model illustrates clinical implications of BCBM CTC screening method for brain micro-metastasis before they become detectable by MRI. BCBM-associated CTCs can be used as a tool to evaluate responses to therapy for BCBM patients (Photo courtesy of Houston Methodist).

Blood Test Detects Brain Metastases While Treatable

A blood test is being generated that can identify breast cancer patients who are at increased risk for developing brain metastasis, and also monitor disease progression and response to therapy in real time. More...
16 Aug 2017
Image: Brain scans from the study ‘Heterozygous de novo UBTF gain-of-function variant is associated with neurodegeneration in childhood’ (Photo courtesy of American Society of Human Genetics).

Neurological Disease Traced to Gene Error

A severe neurological rare disorder in children is characterized by developmental regression and neurodegeneration and at first the children lead normal lives and seem identical to their age-matched peers. More...
15 Aug 2017
Image: A prototype of the D4 assay (Photo courtesy of Daniel Joh, Duke University).

Smartphone-Based ELISA Developed for Blood Antigens

A novel high speed, lab-on-a-chip ELISA test for antigens in blood samples depends on a unique nonstick polymer coating that eliminates the need for multiple incubation and washing steps. More...
14 Aug 2017

Dried Blood Assessment Equivalent to Drawn Blood Samples

A self-sampling method for therapeutic drug monitoring (TDM) of biologicals was developed that should enhance TDM implementation by patients with various autoimmune conditions. More...
14 Aug 2017
Image: The FilmArray respiratory panel enables rapid and accurate automated detection of pathogens causing respiratory infections (Photo courtesy of Idaho Technologies).

Test Discriminates Between Viral and Bacterial Infections

Lower respiratory tract infection (LRTI) commonly causes hospitalization in adults but because bacterial diagnostic tests are not accurate, antibiotics are frequently prescribed. Antibiotics are lifesaving drugs, but overuse is leading to antibiotic resistance, one of the world's most pressing health threats. More...
10 Aug 2017
Image: Dyskeratosis congenita manifests as nail dystrophy where nail findings include ridging and longitudinal splitting. The nails may become thinned and atrophic leading to pterygium formation or absent nails. The changes in the fingernails and toenails may worsen over time (Photo courtesy of Dr. Maurice van Steensel).

CRISPR Illuminates Pediatric Bone Marrow Failure Syndrome

Children with dyskeratosis congenita experience progressive bone marrow failure, eventually losing the ability to make red blood cells, white blood cells and platelets and they are also at high risk of leukemia. More...
10 Aug 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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