One Got It, One Didn’t
A Newborn Test Determines Different Trajectories in the Lives of Two Siblings.
GAMT deficiency is one of three known disorders affecting the metabolism of creatine These disorders primarily affect the brain and muscles and usually result in severe intellectual disability and limit speech development to a few words.
What if our bodies were libraries? And the thousands of books, instead of sitting on the shelves, were circulating through our bodies? Each book a gene; each gene, a story. Written into these stories are vital, personal clues for identifying and treating disease.
Improving Treatment and Deterring Need for Biopsy
Now a simple blood sample can provide diagnostic information and allow for earlier intervention and, ultimately, more targeted, life-saving treatment.
From a clinical perspective, an important finding was that the virus can be transmitted person-to-person by routes other than mosquito bites. This was the first recognized case, and a very rare one, of a secondary Zika virus infection acquired by contact with a sick person
TARUP Medical Directors Yuan Ji, PhD, DABCP, FACMG, and Kamisha Johnson-Davis, PhD, DABCC, specialize in pharmacogenetics and toxicology (respectfully) and address questions of clinical utility regarding thiopurine drug testing and TPMT pharmacogenetics testing.
Earning this standard gives ARUP the opportunity “not only to ‘study for the exam,’ but also to ‘learn for life,’” said Frank Schneider, MD, FCAP, and chair of the College of American Pathologists (CAP) 15189 Committee.
For a baby, modern medicine’s prick on the heel and speedy shuttling of bloodwork to a lab can utterly change a life to be led.