“One in 40 Ashkenazi Jews will carry this gene.” Often, after a patient receives a breast cancer diagnosis and undergoes genetic testing, doctors will recommend that other family members also take a ...
One way to get ahead of that diagnosis is genetic testing. There are 13 gene mutations related to breast cancer, according to ...
New diagnostics, including lab tests and imaging, are revolutionizing medicine and creating exciting opportunities for ...
Hereditary cancer is caused by germline mutations, typically following an inheritance pattern within a family. In contrast, sporadic cancer is caused by somatic mutations interacting with ...
RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this ...
Genetic testing, often via a blood sample, can confirm a muscular dystrophy diagnosis. It can also identify specific gene mutations to help guide treatment and determine whether or not someone is a ...
October is Breast Cancer Awareness Month, and genetic testing proved to be lifesaving for the women featured in this story.Jodi Lavery discovered she had a BRCA-2 gene mutation, increasing her risk ...
At Children's Hospital Colorado, Aurora, Colorado, pediatricians will soon have a new ally in diagnosing and identifying complex neurodevelopmental conditions like ...
ORLANDO — Genetic testing is warranted in patients with epilepsy of unknown origin, new research suggests. Investigators found that pathogenic genetic variants were identified in over 40% of patients ...
The cancer was detected because he was enrolled in a "world-leading research study" which is screening 100,000 newborn babies ...
It takes years for most people with a rare disease to learn what is ailing them. Their symptoms may be crystal clear, but the cause isn’t. Efforts by the Department of Justice — an agency not known ...
A.D.A.M. Innovations and SOPHiA GENETICS (SOPH) announced at ESMO a strategic agreement to bring liquid biopsy genomic testing to the Japanese population.The companies will also partner to ...
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