Articles related to GENETIC 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.

“When 60% of ‘not medically necessary’ denials are reversed…we’re seeing algorithmic denial for delay’s sake.” — Anthony J. Paravati, MD, Kettering Health

“When it is proven to be safe, durable, deliverable in young children, and clearly improves long-term communication outcomes, not just hearing thresholds, then it becomes a routine referral.” — Julie Wei, MD, Akron Children’s Hospital