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Molecular Diagnostics

Image: The HiSeq X Five System enables ultra-high-throughput whole-genome sequencing at a cost and scale appropriate for large genome centers (Photo courtesy of Illumina).

Whole-Genome Sequencing Diagnoses Early Infantile Epileptic Encephalopathy

Early infantile epileptic encephalopathy (EIEE) is a rare epilepsy syndrome that causes intractable seizures with multiple seizure types and presents in the first months of life. While the prevalence of EIEE is unclear, and only affects a subset of all infants with seizures, infants with EIEE have serious medical complications. More...
30 Aug 2018
Image: Karyotyping of Trisomy 21 in a female: There is a full set of 23 homologous pairs of autosomes, but an extra chromosome 21 (Photo courtesy of Dr. Daniel Closa).

DNA Screening and Invasive Testing Show Similar Miscarriage Rates

Cell-free DNA (cfDNA) tests are increasingly being offered to women in the first trimester of pregnancies at a high risk of trisomy 21 to decrease the number of required invasive fetal karyotyping procedures and their associated miscarriages. More...
29 Aug 2018
Image: A photomicrograph of a myeloma colored with hematoxylin and eosin stain (Photo courtesy of Wikipedia Commons).

Improved Myeloma Diagnosis Based on Blood Count Components

A team of British researchers has found which blood tests could be useful for suggesting or excluding a diagnosis of myeloma. More...
27 Aug 2018
Image: The new Anti-Zika Virus IgAM ELISA kit detects both IgM and IgA antibodies (Photo courtesy of EUROIMMUN).

ELISA kit Offers Enhanced Diagnosis of Zika Virus Infection

An ELISA kit that measures anti-Zika virus antibodies of both the IgM and IgA classes was shown to accurately diagnose the acute phase of the infection even in patients with prior flavivirus exposure. More...
27 Aug 2018

Genotyping Assay Integrated into Glioma Treatment

Stage II diffuse gliomas are normally challenging to identify using intraoperative histologic methods because of their location, infiltrative growth, low cellularity, and small stereotactic biopsy size. Diagnosis often requires the patient to undergo multiple neurosurgical procedures to collect tumor tissue samples. More...
22 Aug 2018
Image: A histopathology of non-small cell lung cancer from a fine needle aspirate showing marked variation in nuclear size and shape, irregularly distributed nuclear chromatin, and large, prominent nucleoli (Photo courtesy of Ed Uthman, MD).

Blood-Based Test Predicts Benefits of Lung Cancer Treatment

Although programmed death-ligand 1–programmed death 1 (PD-L1–PD-1) inhibitors are broadly efficacious, improved outcomes have been observed in patients with high PD-L1 expression or high tumor mutational burden (TMB). More...
22 Aug 2018
Image: A comparison of an unaffected brain and an affected brain with pachygyria (Photo courtesy of Case Western Reserve University School of Medicine).

Genetic Mutation Identified in Childhood Brain Disorder

Pachygyria is characterized by abnormal movement of brain nerve cells, known as neurons, during development of the brain and nervous system and is caused by a breakdown in the fetal neuronal migration process due to genetic or possibly environmental influences. More...
21 Aug 2018
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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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