Discover the role of genetic testing in diagnosing and managing atypical behavior disorders like Autism Spectrum Disorder and Lujan-Fryns Syndrome for personalized treatment plans.
Vision fades as the retina degenerates, and an affected parent has a 50% chance of passing ADRP on. ADIPOR1, rhodopsin and a PRPH2 p.Cys250Gly are named.
Discover the importance of understanding and diagnosing autosomal recessive inheritance disorders, and how genetic testing, carrier testing, and prenatal diagnosis can improve…
Night blindness and narrowing vision follow retinal degeneration in ARRP. ERG and OCT map the damage; DNA testing points to IDH3A, RP1, CERKL or MERTK.
Impulses that stall at the AV node slow the heartbeat. Causes range from heart attack and hyperkalemia to sick sinus syndrome and certain medications.
Immature lymphoblasts crowd out healthy blood cells in B-ALL. Markers such as t(8;22)(p11;q11) confirm the diagnosis, set risk and track treatment response.
KCNQ2, KCNQ3, SCN2A and SCN8A head the ion channel genes tied to seizures that begin in the first days of life and usually settle within the first year.
Discover the importance of genetic testing in understanding and diagnosing Beta Zero Thalassemia, its molecular basis, prenatal diagnosis, and targeted therapies.