Seizures continue despite several anti-seizure medicines in about 30% of people with epilepsy. KCNQ2, POLG and ABCB11 variants are among the genetic causes.
Studies tie Cited1, RMND1 and SLC34A1 to kidney dysfunction, and PHACTR1, PPARD and PRKN polymorphisms to treatment-resistant hypertension in chronic kidney disease.
Tumor genetics shape care in renal TCC, also called clear cell renal cell carcinoma, where MYH9 acts as a prognostic marker and a factor in sunitinib resistance.
Progressive deterioration of the retina is studied through canine PRA models and a CNGB1 frameshift mutation, with testing offering diagnosis, prognosis and planning.
Weakened Rh antigen expression can leave routine blood typing inconclusive. Molecular genotyping, serological testing and uses in pregnancy and transfusion are covered.
Peripheral nerves that carry touch, temperature, pain and movement signals degenerate over time. Reported causes include HINT1, TTR and NUDT2 gene variants.
A short fetal femur may reflect normal variation, skeletal dysplasia or chromosomal changes; isolated cases are tied to low birth weight and preterm birth.
Discover the role of genetic testing in diagnosing & managing sickle cell-Hemoglobin O Arab disease, its importance in early detection, treatment guidance, & prenatal care.