Articles related to GENETIC TESTING

Invasive mucinous adenocarcinoma carries elevated NRG1 fusion burden that standard DNA-based sequencing reliably misses, while an FDA-approved targeted therapy now exists for confirmed cases.

A 55-year-old man with bilateral hand arthritis, ruddy complexion, and elevated transferrin saturation presents a diagnostic reasoning challenge with implications for screening, surveillance, and family testing.

Extreme LDL-C in young patients with family history points toward familial hypercholesterolemia, a common genetic disorder that remains undiagnosed in 70% of cases.

The American Epilepsy Society released the first dedicated treatment guideline for infantile epilepsy. Two strong surgical recommendations sit alongside conditional pharmacological and dietary guidance.

According to one review, cardiovascular risk in HoFH is driven not solely by LDL cholesterol levels at a single point in time, but by cholesterol burden over time, or the total lifetime exposure to LDL cholesterol.

The NSGC CPC strongly recommends that all individuals with unexplained epilepsy be offered genetic testing, regardless of age.