Molecular Diagnostics

Molecular Classification Improves Method to Diagnose Gliomas

The molecular makeup of brain tumors can be used to sort patients with gliomas into five categories, each with different clinical features and outcomes. More...
28 Jun 2015

Image: Histopathology of interstitial edema in a cardiac transplant biopsy may be a sign of antibody-mediated rejection (Photo courtesy of the Society for Cardiovascular Pathology).

Utility and Performance of Heart Transplant Test Confirmed

An innovative molecular blood test has been used following a heart transplant procedure and this test enables routine, noninvasive surveillance of acute cellular rejection, thereby assisting clinicians in the care and management of patients. More...
24 Jun 2015

Image: The face of a patient with Bloom syndrome or congenital telangiectatic erythema, a rare autosomal recessive disorder (Photo courtesy of Dr. Amira M. Elbendary).

New Genetic Variants Identified for Bloom Syndrome

For many diseases, testing is limited to detecting only the most common variants that are associated with a particular ethnicity, such as Ashkenazi Jews, who are known to have genes that make them susceptible to a variety of diseases. More...
24 Jun 2015

Prognostic Marker Gene Found for Anaplastic Astrocytoma

A gene encoding for the enzyme isocitrate dehydrogenase 1 might be prognostic marker for a rare form of brain cancer known as anaplastic astrocytoma. More...
23 Jun 2015

Early-Stage Cancers May Be Detected with Noninvasive Prenatal Testing

A noninvasive prenatal testing is a screening technique used to detect Down syndrome and other conditions involving chromosomal abnormalities in a developing fetus. More...
23 Jun 2015

Endoscopic Samples Show Precancerous Genomic Changes in Barrett's Esophagus

Next-generation sequencing has been used to detect genomic mutations in precancerous esophageal tissue, which may improve cancer surveillance and early detection in patients with Barrett's esophagus. More...
22 Jun 2015

$Image: Illustrated summary of the role of the AIRE gene product and its connection to a group of autoimmune disorders now discovered to be related. The AIRE gene is expressed in a rare population of the thymus, where it is critical for educating immune cells, called T cells, to discriminate between foreign invaders and body’s own proteins. Normally (top) AIRE operates in the form of a complex made up of four identical strands. When both copies of the AIRE gene are mutated (recessive), the resulting complex (middle) is dysfunctional and patients suffer from severe autoimmune disorders. When there are specific mutations in only one copy (dominant, bottom), the protein\'s function can still be disrupted and individuals can develop autoimmune disorders with different levels of severity. (Photo courtesy of Weizmann Institute of Science).$