Excess estrogen, obesity and diabetes are among the risk factors for endometrial neoplasm; transvaginal ultrasound, biopsy, D&C and Lynch syndrome testing follow.
Protein deposits cloud the cornea when TGFBI is altered; inherited in an autosomal dominant pattern, it is confirmed by slit-lamp exam, topography and DNA testing.
When a newborn drools, chokes or cannot take a feeding tube, imaging can show a blind-ending esophagus; testing may reveal VACTERL or CHARGE syndrome links.
A consistent 130/80 mm Hg or higher defines essential hypertension, and variants in RAAS genes or CYP3A5 can shape both risk and response to medication.
Familial erythrocytosis is a rare genetic disorder with increased red blood cells. Learn about its diagnosis, symptoms, and how genetic testing can guide treatment and family…
Unlock the potential of genetic testing for Familial Hemiplegic Migraine. Learn about diagnosis, genetic mutations, personalized treatment plans, and family planning options.
Episodes of muscle weakness split into hypokalemic and hyperkalemic forms tied to CACNA1S, SCN4A and KCNJ2; potassium levels and DNA analysis tell them apart.
Ensure proper diagnosis and manage familial febrile seizures effectively with genetic testing. Learn about mutations, risk prediction, and personalized treatment strategies.